Diko : en:deficiency of fat-soluble vitamins

en:deficiency of fat-soluble vitamins

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C2749574

Associations d'idées

[F]

›

1000

en:prolonged bleeding time (10 - >30 minutes)

•

en:deficiency of creatine phosphate in brain

•

en:pancreatic trypsinogen deficiency

•

en:abnormal serum liver enzyme levels

•

en:decreased palmitate oxidation

•

en:galactosuria without galactosemia

•

en:hyperphenylalaninemia

•

en:increased lactate: pyruvate ratio (group b)

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:submucosal macrophages filled with sphingolipids

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:decreased or normal serum factor i

•

en:partial deficiency of factor xi (less common)

•

en:elevated plasma acth

•

en:increased urinary l-glycerate

•

en:elevated urinary 3-methylglutarate

•

en:normal transferrin isoelectric profile

•

en:normal to increased plasma glycine

•

en:normal igg levels

•

en:organic aciduria

•

en:increased tissue levels of triglycerides

•

en:increased intracellular fmrp mrna

•

en:immunoglobulin antibodies present

•

en:hypoalphalipoproteinemia

•

en:increased serum ige

•

en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3

•

en:normal to mildly increased serum creatine kinase

•

en:low plasma hdl

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

•

en:decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase

•

en:glucose breath hydrogen test shows malabsorption of glucose and galactose

•

en:decreased csf arginine

•

en:absence of beta-ureidopropionase activity and protein in liver biopsy

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:rheumatoid factor positive (finding)

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:defective dna repair after ultraviolet radiation damage

•

en:3-methylglutaconic aciduria

•

en:fibrinogen decreased

•

en:decreased activity of cytochrome c oxidase in muscle and fibroblasts

•

en:platelet factor 4 decreased

•

en:low acth level

•

en:iron binding capacity total increased

•

en:serum cholesterol low or normal

•

en:increased interferon-alpha signal

•

en:electrolyturia (1 patient)

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:deficiency of laminin in basement membranes

•

en:decreased urocanic acid in blood, urine, and skin cells

•

en:decreased serum bun

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:normal serum erythropoietin (epo, 133170)

•

en:thyroid peroxidase defect

•

en:phytanic acid increased

•

en:phosphaturia (in some)

•

en:no increased sensitivity to oxidative species

•

en:no hyperphenylalaninemia

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:normal extrarenal responses to ddavp administration

•

en:increased serum c26-bile-acid intermediates

•

en:hypophosphatemia (less common)

•

en:hepatic argininosuccinase deficiency

•

en:decreased serum factor b (atypical hus)

•

en:decreased serum 25-hydroxyvitamin d

•

en:variable hypoglycemia

•

en:decreased mitochondrial nadp(h)

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:low or absent follicle stimulating hormone (fsh)

•

en:deficiency of saposins a, b, c, and d

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:orotic acid crystalluria

•

en:lysine-ketoglutarate reductase deficiency

•

en:low or absent luteinizing hormone (lh)

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:increased urinary hga

•

en:increased csf glycine

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:fucosidosis

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:increased serum erythropoietin (epo, 133170)

•

en:folate-dependent fragile site at xq28

•

en:ketonemia

•

en:increased urinary oligosaccharides

•

en:hyperlipoproteinemia type iib

•

en:hyperglycinemia

•

en:bone marrow hypoplasia (in some patients)

•

en:elevated ferritin l subunit

•

en:decreased serum ceruloplasmin

•

en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)

•

en:affected mother has normal plasma zinc levels and is not zinc-deficient

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:normal or mildly reduced serum cobalamin

•

en:low serum magnesium

•

en:platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy

•

en:polycythemia

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:abacterial leukocyturia

•

en:reduced beating amplitudes in cilia

•

en:type ii, normal antithrombin iii level but decreased activity

•

en:normal serum phytanic and pristanic acid

•

en:increased csf interferon

•

en:serum copper decreased

•

en:disseminated intravascular coagulation

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased pyruvate carboxylase (pc) activity (less than 5%)

•

en:azotemia

•

en:decreased csf serine

•

en:decreased levels of plasma vwf antigen

•

en:organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)

•

en:2,8-dihydroxyadenine (dha) urinary stones

•

en:at least 2 complementation groups

•

en:decreased blood levels of cationic amino acids

•

en:elevated plasma desmosterol

•

en:fasting ketosis

•

en:high ft3/ft4 ratio

•

en:impaired response to gm-csf

•

en:increased alpha-fetoprotein (1 patient)

•

en:increased il6, episodic

•

en:iron deficiency

•

en:median mean platelet volume (mpv) 12.5fl

•

en:elevated fasting glucose

•

en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair

•

en:elevated serum phosphate in heterozygotes

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased peripheral blood monocytes

•

en:4-hydroxyphenylpyruvic aciduria

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:homozygous 122kb deletion 11p15-p14

•

en:increased csf threonine

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:decreased phk activity in liver

•

en:c-band karyotype shows 'railroad track' appearance

•

en:alanine aminotransferase increased

•

en:abnormal liver function tests (in some patients)

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)

•

en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)

•

en:abnormal liver function tests (less common)

•

en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia

•

en:decreased levels of serum vitamin b12

•

en:decrease plasma serine (fasting)

•

en:hypokalemia during attacks

•

en:increased plasma pristanic acid

•

en:keratan sulfaturia in some patients

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:normal-to-decreased plasma glycine (fasting)

•

en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

•

en:elevated gamma-glutamyltransferase

•

en:exercise-induced myoglobinuria

•

en:hypertryptophanemia

•

en:increased plasma proinsulin

•

en:normal apoa-ii levels in homozygotes

•

en:serum testosterone level normal

•

en:serum calcitonin, increased

•

en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)

•

en:calciuria

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:thyroid hormones increased

•

en:serum bicarbonate increased

•

en:serum ammonia increased

•

en:antiribonuclear protein positive

•

en:microscopic hematuria

•

en:increased plasma creatine

•

en:decreased metabolism of thiopurine drugs

•

en:decreased clot retraction

•

en:aldosterone concentration below normal

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:decreased serum free thyroxine

•

en:decreased c3 antigen

•

en:decreased activity of ppt1

•

en:deletion of chromosome 18p11.2

•

en:increased serum 18-hydroxycorticosterone (18-ohb)

•

en:very low igg

•

en:serum triglycerides normal

•

en:prolinuria

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:incresased urinary pyruvate

•

en:increased serum lactate during metabolic crisis

•

en:ultra large von willebrand factor (ul-vwf) in plasma

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:hypocalcemia (64% of adults)

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells

•

en:glutaric acidemia type 1

•

en:detection by rt-pcr and southern blot analysis for primary diagnosis and follow up for residual disease

•

en:eosinophilia

•

en:hypoglycemia, intermittent

•

en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)

•

en:normal to slightly high alkaline phosphatase

•

en:long-chain dicarboxylic aciduria

•

en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

•

en:increased serum s-adenosylmethionine

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:elevated alkaline phosphatase (if more than one affected site)

•

en:dermatan and heparan sulfate excretion in urine

•

en:decreased c3 activity

•

en:creatine phosphokinase serum increased

•

en:absent or abnormal thyroglobulin

•

en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood

•

en:undetectable norepinephrine (noradrenaline) in plasma, urine, csf

•

en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)

•

en:increased 11-deoxycorticosterone

•

en:abnormal nasal potential difference

•

en:isovaleric acidemia

•

en:decreased beta-thromboglobulin

•

en:variable hyperlipidemia

•

en:pms have increased metabolic ratio of unchanged drug-to-metabolite in urine

•

en:partial deficiency of factor xii(c)

•

en:normal to slightly elevated plasma cholesterol

•

en:myoglobinuria with extreme exertion

•

en:reduced erythrocyte glucose/hexose transport

•

en:increased ferritin

•

en:dehydration

•

en:increased beta-alanine (in 1 of 2 patients)

•

en:impaired platelet aggregation

•

en:elevated 1,25(oh)2 d3

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:increased csf homovanillic acid (hva)

•

en:metabolic acidosis

•

en:methylenetetrahydrofolate reductase deficiency

•

en:mildly elevated hepatic enzymes

•

en:nonketotic hypoglycemia

•

en:normal ciliary structure and function

•

en:normal or mildly decreased arylsulfatase a activity

•

en:increased serum thrombopoietin may occur

•

en:normal constitutional karyotype

•

en:normal or decreased serum potassium

•

en:normal platelet aggregation studies with adp, collagen, and ristocetin

•

en:normal serum bile acids

•

en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1

•

en:normal serum complement levels

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:isochromosome 12p (i(12p))

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low urinary orotic acid

•

en:low serum levels of branched-chain amino acids

•

en:low rai (radioactive iodine) uptake

•

en:lactate dehydrogenase increased

•

en:ketonuria, acute

•

en:isovalerylglycinuria

•

en:indirect bilirubin increased

•

en:increased urinary sialylglycopeptides

•

en:increased urinary potassium

•

en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine

•

en:increased urinary carnitine

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:patient cells have increased levels of lmnb1 mrna and protein

•

en:parathyroid hormone level increased

•

en:type i, classic, decreased antithrombin iii levels

•

en:pentagastrin stimulation test

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:abnormal serum lipoprotein levels (in 3 of 10 patients)

•

en:abnormal oral glucose tolerance

•

en:abnormal lipid profile

•

en:abetalipoproteinemia (lab finding)

•

en:variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle

•

en:urinary prostaglandin e

•

en:urinary excretion of mucopolysaccharides

•

en:increased renal tubular phosphate reabsorption

•

en:transaminitis

•

en:thyroid dyshormonogenesis 4

•

en:tay-sachs disease

•

en:severe hypernatremia in neonatal period

•

en:severely impaired ciliary motility

•

en:serum transaminase increased

•

en:phosphate normal

•

en:serum testosterone decreased

•

en:serum osmolality decreased

•

en:serum creatinine raised

•

en:serum cortisol elevated

•

en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase)

•

en:reduced ige levels

•

en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate

•

en:protein c decreased

•

en:prolonged activated partial prothrombin time (appt)

•

en:presence of vacuoles on muscle biopsy

•

en:polyploid sperm heads

•

en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em)

•

en:plasma triglycerides increased

•

en:pipecolic acidemia

•

en:increased serum lactate

•

en:elevated plasma propionylcarnitine

•

en:increased pyruvate in serum and csf

•

en:ballooned neurons

•

en:decreased uros activity (1 patient)

•

en:decreased t cells

•

en:decreased switched memory b cells (in some patients)

•

en:decreased serum igm

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:decreased or absent serum ceruloplasmin

•

en:decreased fibroblast arylsulfatase a

•

en:decreased dna excision repair

•

en:decreased cpt1 activity

•

en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678)

•

en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)

•

en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes)

•

en:blood glucose normal

•

en:anti-tissue transglutaminase antibodies (anti-ttg)

•

en:deficiency or absence of p22-phox (608508) protein

•

en:aminoaciduria

•

en:alpha fetoprotein increased

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:absent ch50 activity in complete c4 deficiency

•

en:abnormal schilling test (not normalized by addition of intrinsic factor)

•

en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio)

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans

•

en:abnormal acylcarnitine profiles

•

en:5-hiaa csf may be normal or decreased

•

en:4-hydroxyphenyllactic aciduria

•

en:4-hydroxyphenylacetic aciduria

•

en:absence of cpt ii protein

•

en:deficiency of laminin alpha-2 chain of merosin (lama2, 156225) in muscle

•

en:deficiency or absence of p47-phox protein (type i)

•

en:increased plasma proglucagon

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:increased phytanic acid in body tissues and fluids

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:iga antiendomysial antibodies (ema)

•

en:hypobetalipoproteinemias

•

en:hypoalbuminemia (in 83%)

•

en:hyperprostaglandinuria

•

en:hypernatriuria

•

en:hypermethioninemia, progressive

•

en:hyperkalemia during attacks

•

en:hyperglycemia

•

en:high serum osmolality

•

en:high ornithine

•

en:hereditary xanthinuria

•

en:glycogen accumulation in both liver and muscle

•

en:deficient efflux of intracellular cholesterol

•

en:glycinuria

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:euvolemia

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated sweat chloride

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated propionate

•

en:elevated hdl (2-6x normal) in homozygotes

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)

•

en:elevated 17-hydroxyprogesterone

•

en:electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms

•

en:dicarboxylic aciduria

•

en:dehydroepiandrosterone (dhea) at upper level of normal range

•

en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)

•

en:factor vii deficiency

•

en:absent anti-insulin receptor antibodies

•

en:increased urinary cross-linked n-telopetide of type i collagen

•

en:mild elevation of triglycerides

•

en:mild-moderate prolonged bleeding time

•

en:microduplication of chromosome 5p13

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:low to very low hdl cholesterol

•

en:low to low-normal magnesium

•

en:low or low-normal serum t4

•

en:low level of c4 and c2

•

en:liver function tests normal

•

en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation

•

en:iodide organification defect

•

en:intermittent ethylmalonic aciduria

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid

•

en:mitochondrial malic enzyme reduced

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased susceptibility to ebv infection

•

en:increased succinyladenosine (s-ado) in serum, urine, and csf

•

en:increased serum thyrotropin

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum lactate, particularly after exercise

•

en:increased serum deoxyuridine

•

en:increased plasma phospholipids

•

en:increased nasal-potential difference (1 of 3 patients)

•

en:increased lysine in serum and csf

•

en:increased fractional excretion of urate (greater than 50%)

•

en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd)

•

en:increased coproporphyrin isomer iii:i ratio (hcp, feces)

•

en:increased cellular sensitivity to uv light

•

en:mitochondrial complex i deficiency in muscle

•

en:molybdenum cofactor deficiency

•

en:iiga and igg antigliadin antibodies (aga)

•

en:platelet antibody positive

•

en:variably increased serum creatine kinase

•

en:absent dystrophin on muscle biopsy

•

en:uric acid normal

•

en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition

•

en:transient neonatal hypocalcemia (2p21del)

•

en:t-cell deficit

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:severe thrombocytopenia (30-60 x 10(9)/l)

•

en:serum homocysteine normal

•

en:rheumatoid factor negative

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients)

•

en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients

•

en:plasma protein c deficiency

•

en:monomeric igm

•

en:phosphaturia may disappear after a long period of time

•

en:phosphaturia

•

en:patient cells show increased chromosome breakage

•

en:partial deficiency of factor xiii (less common)

•

en:no mucopolysacchariduria

•

en:no hyperuricemia

•

en:no evidence of common prenatal infections

•

en:normal urinary cyclic amp response to pth administration

•

en:normal serum biotin concentration

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal or increased urinary cyclic amp response to pth administration

•

en:normal csf neurotransmitters

•

en:normal-to-slightly decreased glcnac phosphotransferase using artificial substrate (e.g., alpha-methylmannoside)

•

en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii

•

en:inappropriately low urine osmolality

•

en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts

•

en:igg deficiency

•

en:decreased activity of mitochondrial respiratory complexes i, ii+iii, iv, and v

•

en:decreased serum factor h (atypical hus)

•

en:decreased serum cholesterol (in some)

•

en:decreased serum androgens

•

en:decreased serum acth

•

en:decreased plasma hdl (<1/10 of normal levels)

•

en:decreased natural killer cells

•

en:decreased methionine synthase activity

•

en:decreased levels of cpt2 protein

•

en:decreased intracellular fmr protein

•

en:decreased gtp cyclohydrolase i activity (about 20% of normal)

•

en:decreased cortisol-binding globulin

•

en:decreased cholesterol (less common)

•

en:decreased adenosylcobalamin

•

en:decreased activity of mitochondrial complex i

•

en:decreased switched memory b cells

•

en:decreased activity of dihydrofolate reductase

•

en:decreased acid sphingomyelinase activity (less than 5%)

•

en:creatine phosphokinase increased

•

en:continuous urinary iodine loss

•

en:chromosome inversion - inv2(p12q14) in 2 patients

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus

•

en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

•

en:carnitine palmitoyltransferase ii deficiency (25% of controls)

•

en:balanced translocation carrier 46,xy,+(11:18)(p13:q21)mat

•

en:antithrombin iii decreased

•

en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)

•

en:absent pro alpha 2(i) chain synthesis (fibroblasts)

•

en:decreased serum thyroxine (t4)

•

en:decreased conversion of beta-carotene to vitamin a (retinol)

•

en:decreased telomerase activity

•

en:fibronectin decreased

•

en:hypertriglyceridemia

•

en:defect in n- and o-glycosylation

•

en:hypernatremia

•

en:hyperlipoproteinemia type i

•

en:hyperchloridura

•

en:hypercalciuria (in childhood)

•

en:hypercalcemia

•

en:hyperammonemia, episodic

•

en:high plasma asparagine

•

en:hepatic lipase deficiency (disorder)

•

en:hematuria (less common)

•

en:granular osmiophilic deposits (grod) in cells

•

en:giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage

•

en:galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

•

en:hyperphosphatemia

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:elevated fasting triglycerides

•

en:electron microscopy of patient respiratory cells shows absent inner and outer dynein arms

•

en:female carriers show markedly skewed x inactivation

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms in the axoneme

•

en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links

•

en:elevated acth

•

en:elevated erythrocyte sedimentation rate (mean 90mm/h)

•

en:hypoglycemia

•

en:elevated gastrin concentration

•

en:elevated total bilirubin

•

en:elevated urine unsulfated chondroitin sulfate

•

en:excess protoporphyrin in bile and feces but not in urine

•

en:elevated serum uric acid concentrations

•

en:mildly elevated transaminases

•

en:low to normal tsh (values may vary depending on the measurement methods used)

•

en:methylsuccinic aciduria

•

en:microdeletion of chromosome 11q13 (43-490kb)

•

en:mildly decreased serum creatinine

•

en:myoglobinuria (reported in 1 patient)

•

en:moderate to severe thrombocytopenia (30-90 x 10(9)/l)

•

en:normal blood lactate

•

en:low procollagen 1 c-peptide (in some patients)

•

en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes

•

en:neutral hyperaminoaciduria

•

en:neutropenia (in 1 patient)

•

en:normal b12

•

en:low serum alkaline phosphatase in heterozygotes

•

en:liver phosphorylase kinase (phk) deficiency

•

en:low plasma triglyceride level

•

en:low-to-normal csf lactate

•

en:liver enzymes abnormal

•

en:increased urinary glutaric acid

•

en:increased urinary 2-methylacetoacetic acid

•

en:inappropriately increased urine osmolality

•

en:increased serum methionine

•

en:increased serum lactate hydrogenase

•

en:increased serum creatine kinase during episodes

•

en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood

•

en:increased interleukin 10

•

en:increased fractional excretion of uric acid

•

en:increased creatinine

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased triglycerides (less common)

•

en:urinary excretion of sialylated oligosaccharides

•

en:normal number of t and b lymphocytes

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:urine occasionally port-wine in color secondary to porphobilinogen

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:undetectable urinary hypoxanthine

•

en:translocation between 18q21 and 14q32

•

en:transferase deficiency galactosemia

•

en:thrombocytopenia (33-120 x 10(9)/l)

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:skewed x-inactivation in females

•

en:shortened metaphase

•

en:serum folate normal

•

en:serum ferritin normal

•

en:serum c-peptide and glucagon levels measurable

•

en:serum alkaline phosphatase normal or mildly increased

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:normal or increased serum phytanic acid

•

en:propionic acidemia

•

en:prolonged prothrombin and partial thromboplastin times

•

en:positive urine dnph screening test

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:partial deficiency of factor xiii(c)

•

en:oestradiol decreased

•

en:no hematuria

•

en:normal urinary orotic acid

•

en:normal to increased plasma threonine

•

en:normal to elevated total plasma carnitine

•

en:normal serum levels of gamma-ggt (231950)

•

en:normal serum cobalamin

•

en:normal sedimentation rate

•

en:normal or mildly increased serum gamma-glutamyltransferase (ggt)

•

en:impaired oxidation of pyruvate

•

en:decreased serum rt3

•

en:hypoketotic hypoglycemia

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv

•

en:decreased plasma arginine

•

en:decreased or absent ciliary motility

•

en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient)

•

en:decreased levels of plasma factor viii in patients with type 2n

•

en:decreased expression of gpi-anchored proteins on blood cells

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased csf 5-hydroxyindoleacetic acid (5-hiaa)

•

en:decreased complement factor d

•

en:decreased circulating cortisol level

•

en:decreased antithrombin iii (rare)

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of thymidine phosphorylase

•

en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)

•

en:decreased activity of aromatic l-amino acid decarboxylase (aadc)

•

en:decreased plasminogen antigen

•

en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)

•

en:cd4+/cd8+ ratio is reversed

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:aneuploidy of the x chromosome

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:alkaline phosphatase decreased

•

en:absent platelet agglutination in presence of ristocetin

•

en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal igfr1 function

•

en:abnormal cholesterol homeostasis

•

en:abnormal cardiolipin subspecies composition

•

en:'cloudy' or 'pink' blood (lipemia)

•

en:decreased plasma zinc levels

•

en:decreased serum c3 (atypical hus)

•

en:hypermagnesemia

•

en:elevated pth (parathyroid hormone)

•

en:homocystinuria (in some patients)

•

en:hla-b27 haplotype association (95% patients)

•

en:high serum guanosine levels

•

en:glomerular filtration rate decreased

•

en:fluorescence of red blood cells by uv microscopy

•

en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside

•

en:fibroblasts attach poorly

•

en:fasting hyperinsulinemia

•

en:erythroid colony-forming units show spontaneous growth in the absence of epo

•

en:elevated urinary free sialic acid (n-acetylneuraminic acid)

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum transferrin saturation

•

en:elevated mchc

•

en:decreased serum factor i (atypical hus)

•

en:elevated levels of vitamin b12

•

en:elevated lathosterol

•

en:elevated fasting triglycerides (seen in heterozygotes as well)

•

en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf)

•

en:elevated crp

•

en:elevated afp (endodermal sinus tumor)

•

en:elevated 3-hydroxypropionic acid

•

en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes

•

en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts

•

en:deficiency of fructokinase

•

en:defects in mitochondrial oxidative phosphorylation

•

en:defective bile acid metabolism

•

en:decreased urinary excretion of uromodulin

•

en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity

•

en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces

•

en:pregnant mothers of affected children have decreased plasma and urinary estrogen

•

en:2-aminoadipic aciduria

•

en:low or absent thyroid-stimulating hormone (tsh)

•

en:normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration

•

en:normal concentration of parathyroid hormone

•

en:normal axonal flare response after intradermal histamine injection

•

en:neutropenia

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:nephrotic syndrome

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:mild hyperammonemia

•

en:microdeletion 22q11.2

•

en:median mean platelet volume 13fl

•

en:marked hypobetalipoproteinemia

•

en:low to absent apo a-i (detroit 107680.0011)

•

en:low plasma free and total carnitine

•

en:loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

•

en:normal lactate (hcs)

•

en:long-chain ketonuria

•

en:lack of ciliary motility

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary propionyl glycine

•

en:increased urinary methylcitrate

•

en:increased urinary excretion of camp

•

en:increased urinary dicarboxylic acid, transient

•

en:increased urinary collagen type i n-telopeptide excretion (ntx) during hyperplastic callus formation

•

en:increased urinary and serum glycine

•

en:increased serum unconjugated bilirubin

•

en:increased serum transaminases (in 1 of 3 patients)

•

en:increased serum lactate in acute stage

•

en:increased serum citrulline (group b)

•

en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation

•

en:normal lysyl hydroxylase activity

•

en:increased serum alpha-interferon (ifna1, 147660)

•

en:serum ferritin hyperglycosylation

•

en:4-hydroxyphenylactic aciduria

•

en:vitamin k deficiency

•

en:very low leptin level

•

en:vacuolated lymphocytes

•

en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp)

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:t cells may be increased or decreased

•

en:tyrosinemia

•

en:translocation of chromosomes 9 and 13

•

en:tonofibril defect (cross-beta-protein structure)

•

en:telomere shortening

•

en:spongy degeneration of brain on histology

•

en:serum prolactin increased

•

en:serum creatine kinase may be normal or increased

•

en:normal phytanic acid

•

en:serum creatine kinase may be normal

•

en:serum and csf lactate may be increased

•

en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients

•

en:raised c-reactive protein

•

en:protein total decreased

•

en:prolonged partial thromboplastin time (ptt)

•

en:presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes

•

en:premature separation of centromeric heterochromatin

•

en:plasma ammonia not elevated

•

en:patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11)

•

en:normal sweat electrolytes

•

en:normal serum transferrin profiles

•

en:normal serum folate levels

•

en:normal serum creatine kinase

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:translocation (x,7)(p11.3,q11.21) - in some patients

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:decreased dna polymerase-gamma (polg, 174763) activity

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

en:decreased renal calcium excretion

•

en:decreased plasminogen activity

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased or normal serum c3

•

en:decreased nasal nitric oxide

•

en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle

•

en:decreased levels of coenzyme q10 in skeletal muscle (5-35%)

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)

•

en:decreased glycerol kinase activity

•

en:decreased formation of complex (tri-, tetra-antennary) n-glycans

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased activities of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex

•

en:creatine kinase levels may normalize with disease progression

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

•

en:bleeding time normal

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

en:alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts

•

en:acylglycinuria

•

en:absent igg2 subclass

•

en:abnormal isoelectric focusing of serum transferrin

•

en:increased plasma branched-chain fatty acids

•

en:abnormal cartilage collagen on em

•

en:defective glcnac-pi synthesis

•

en:a subset of group b patients have absence of pc protein and mrna

•

en:elevated creatine kinase (in some patients)

•

en:high sister chromatid exchange (sce) rate

•

en:elevated csf/plasma glycine ratio

•

en:increased lactate in spinal fluid

•

en:increased excretion of urobilinogen

•

en:increased di- and asialo-transferrin characteristic of type 1 pattern

•

en:increased cross-linked c-terminal telopeptide of type i collagen

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:increased biliverdin in bodily fluids

•

en:hypocholesterolemia

•

en:hypoalbuminemia

•

en:hypertriglyceridemia (in some patients)

•

en:hyperchloremia (mean 114 mm)

•

en:hla-dqw6 association (dqb1*0602)

•

en:high sweat sodium and chloride

•

en:increased csf pyruvic acid

•

en:high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)

•

en:hereditary angioedema

•

en:elevated plasma campesterol

•

en:elevated pyruvate (in most patients)

•

en:elevated serum protein

•

en:increased igm level

•

en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712)

•

en:hair bulb tyrosinase present

•

en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally

•

en:heparin cofactor ii deficiency (disorder)

•

en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)

•

en:hepatic gamma-cystathionase deficiency

•

en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

•

en:ketoses, metabolic

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:low or absent igm levels

•

en:low absolute lymphocyte count

•

en:low maximal oxygen uptake on exercise testing

•

en:low or undetectable insulin

•

en:low serum anti-mullerian hormone (amh) levels

•

en:low serum ceruloplasmin

•

en:mildly elevated creatine phosphokinase (cpk) (120270.0002)

•

en:increased urine porphyrins at times

•

en:increased urinary mannose-containing oligosaccharides

•

en:increased urinary uracil

•

en:increased urinary prostaglandin e2

•

en:increased fas ligand

•

en:increased urinary magnesium

•

en:increased urinary dihydropyrimidines

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased serum lactate (patient a)

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum acylcarnitines

•

en:increased plasma free cholesterol

•

en:increased csf taurine

•

en:mild elevation of transaminases

•

en:increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks

•

en:poor mitogenic response to growth factors

•

en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)

•

en:pseudohypertriglyceridemia in adult form

•

en:urocanase deficiency

•

en:increased chromosomal rearrangements (bone marrow and fibroblast culture)

•

en:urine osmolarity decreased

•

en:urinary excretion of cationic amino acids (lysine, arginine, ornithine)

•

en:urinary excretion of 2-ethyl-3-keto-hexanoic acid

•

en:systemic amyloidosis may occur

•

en:sweat test normal

•

en:serum prolactin decreased

•

en:serum phosphate normal

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:respiratory cilia and sperm flagella show reduced coordination of beating activity

•

en:prolonged bleeding time

•

en:multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes

•

en:plasma aldosterone normal

•

en:phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver

•

en:peroxisome deficiency

•

en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit

•

en:occasionally mild elevation of csf protein

•

en:no evidence of intrauterine infection in mother or newborn

•

en:normal to prolonged bleeding time

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal parathyroid hormone (female)

•

en:normal lysosomal hydrolases

•

en:normal iga levels

•

en:normal cd8+/cd4+ ratio

•

en:increased csf interferon alpha

•

en:decreased hdl cholesterol

•

en:hypomethylation of satellite repeats on chromosome 1, 9, and 16

•

en:cells show increased sensitivity to ionizing radiation

•

en:decreased galactokinase activity

•

en:decreased decr enzyme activity

•

en:decreased csf homovanillic acid (hva)

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased beta-oxidation of pristanic acid

•

en:decreased adiponectin

•

en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d)

•

en:contiguous gene deletion syndrome

•

en:characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva

•

en:cerebrospinal fluid oligoclonal bands

•

en:cell studies show increased dna breakage

•

en:b lymphocytopenia

•

en:decreased or absent dihydropteridine reductase activity

•

en:antithrombin iii deficiency

•

en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies

•

en:aminoaciduria (in some patients)

•

en:alpha-fetoprotein normal

•

en:adenylosuccinase deficiency (finding)

•

en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts

•

en:abnormal urinary oligosaccharides

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:aberrant gamma-interferon-mediated inflammation

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:very low igm

•

en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts)

•

en:decreased plasma free carnitine

•

en:hypokalemia occurs during paralytic attacks

•

en:elevated plasma ornithine (~10-fold)

•

en:hypogammaglobulinemia (in some patients)

•

en:hypogammaglobulinemia

•

en:hypergammaglobulinemia

•

en:hyperbilirubinemia in those with liver failure

•

en:high sweat electrolyte

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:granular osmiophilic deposits (grod) in cells resulting in 'rectilinear' profiles ultrastructurally

•

en:glycogen storage disease type vi

•

en:gaucher disease, type 1

•

en:exercise-induced myoglobinuria in adults

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma insulin

•

en:decreased plasma lpl levels (in some patients)

•

en:elevated cerebrospinal fluid (csf) protein

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms

•

en:electrolyte disturbances from intractable diarrhea

•

en:echocardiogram abnormal

•

en:direct hyperbilirubinemia

•

en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

•

en:defect in dna repair

•

en:decreased urinary sulfate

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum cobalamin

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased plasma serine

•

en:very long chain fatty acid accumulation

•

en:epstein-barr viraemia

•

en:widespread interstitial fibrosis (visceral organs)

•

en:increased urinary disaccharides (mannosyl-n-acetylglucosamine)

•

en:low serum uric acid

•

en:low plasma tryptophan (inflammatory type b)

•

en:low density lipoprotein increased

•

en:liver transaminases normal to slightly increased

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:isochromosome often missing in lymphocyte

•

en:3-methylglutaric aciduria

•

en:increased urinary sulfatide excretion

•

en:increased urinary oxylate

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary excretion of cystine

•

en:increased urinary carnitine esters

•

en:marked elevation of serum c-reactive protein level (crp 123260)

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased serum vascular endothelial growth factor (vegf, 192240)

•

en:increased serum serotonin in 25%

•

en:increased serum lactate (mild)

•

en:increased serum gamma-ggt (231950)

•

en:increased serum bilirubin (in some patients)

•

en:increased serum bile acids

•

en:increased serum ammonia (group b)

•

en:increased serum alanine

•

en:increased serum, urinary, and csf lysine

•

en:increased plasma pipecolic acid

•

en:lysyl hydroxylase deficiency

•

en:methemoglobin concentration 12 to 19%

•

en:increased levels of carcinoembryonic antigen

•

en:prothrombin time increased

•

en:very long-chain fatty acids may be normal or increased

•

en:transcobalamin ii deficiency

•

en:systemic accumulation of very long chain fatty acids (vlcfa)

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum cortisol decreased

•

en:serum alpha-1-antitrypsin (pi) deficiency

•

en:reticulocytosis

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:rapid high rai (radioactive iodine) uptake and turnover

•

en:pyruvate-induced insulin secretion

•

en:pt normal

•

en:positive antinuclear antibody test

•

en:mildly elevated creatine phosphokinase

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:pcd shows separate and rod-shaped x chromosomes without discernible centromeres

•

en:patients with factor xiii beta subunit deficiency usually also have decreased levels of plasma factor xiii alpha subunit

•

en:parathyroid hormone (pth) absent to low

•

en:normal serum parathyroid hormone (pth)

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal mitochondrial respiratory chain complex i-v (hcs)

•

en:normal exocrine pancreatic function

•

en:normal cerebrospinal fluid

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:more than 50% of mitotic cells show premature chromatid separation (pcs) affecting all chromosomes

•

en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)

•

en:increased osmotic fragility

•

en:indirect hyperbilirubinemia

•

en:increased l-2-hydroxyglutaric acid in urine, serum, and csf

•

en:chromosome deletion extending from 8q24.11 to 8q24.13

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased or absent apolipoprotein a-i

•

en:decreased mucosal alkaline phosphatase

•

en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased circulating aldosterone level

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased activity of the pyruvate dehydrogenase (pdh) complex

•

en:csf pleocytosis, particularly of lymphocytes

•

en:chronic hypoxemia

•

en:ceruloplasmin decreased

•

en:decreased ubiquinone-10

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:borderline elevated low-density lipoprotein

•

en:anti-factor viii positive

•

en:increased il1b increased soluble il2r

•

en:affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk)

•

en:acute hyperammonemia

•

en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids

•

en:abnormal secretin test

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes (1 patient)

•

en:abnormal bone marrow karyotype, t(8,21)

•

en:decreased serum vitamin a

•

en:aldolase a deficiency

•

en:defect in double-stranded dna repair

•

en:elevated urinary pge(2) levels

•

en:deficiency or absence of cytochrome b(-245)

•

en:increased gamma-interferon

•

en:impaired mitochondrial translation

•

en:immunoreactive pc protein

•

en:hypermagnesiuria

•

en:hyperkalemia (>6.2 mm in both dominant and recessive)

•

en:high resolution g- and t- banding karyotype shows reciprocal translocation of distal 9p-6q

•

en:high m-component

•

en:globulin gamma serum plasma increased result

•

en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system

•

en:gamma-glutamylcysteine deficiency

•

en:hypocalciuria

•

en:elevated urinary hyaluronic acid levels

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

en:deficiency or absence of p22-phox protein

•

en:elevated total iron-binding capacity

•

en:deficiency or absence of p91-phox protein

•

en:delta-1-pyrroline-5-carboxylate (p5c) levels increased in plasma

•

en:direct coombs test negative

•

en:elevated 3-methylcitric acid

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts

•

en:elevated liver enzymes

•

en:elevated plasma alloisoleucine

•

en:elevated serum alpha-fetoprotein

•

en:multiple autoantibodies

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:mildly elevated acth

•

en:metachromasia of white blood cells and fibroblasts

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:low serum alpha-fetoprotein (recessive)

•

en:iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri

•

en:low free carnitine

•

en:low cholesterol esterification rates

•

en:low 25-oh-vitamin d level

•

en:large spermatozoa

•

en:lactic acidosis

•

en:interstitial or terminal deletion of 18q

•

en:intermittent severe hypoglycemia (in some patients)

•

en:increased urinary isobutyryl glycine

•

en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340)

•

en:normal free urinary cortisol

•

en:serum phosphate concentration below normal

•

en:normal or mildly increased serum gamma-ggt (231950)

•

en:reduced igg levels, particularly igg2 subclass

•

en:xanthine nephrolithiasis

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid

•

en:transient hyperlipidemia

•

en:thyroid dyshormonogenesis 3

•

en:slightly increased serum alkaline phosphatase may occur

•

en:reduced oxygen affinity (e.g. hb thionville 141800.0168)

•

en:reduced cd4+ count and proportionally increased cd8+ count

•

en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp

•

en:positive urinary bratton-marshall test

•

en:polymorphonuclear leukocytosis, episodic

•

en:pms show deficient oxidation of debrisoquine

•

en:pink urine

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:persistent ebv viremia

•

en:patient cells show defective dna repair in response to irradiation and free radical damage

•

en:patient cells show abnormal mitochondrial morphology

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

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Génériques

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en:deficiency

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en:deficiency of

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6845681 • caches: c1=18 c2=1937 c3=2

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