Le Diko - en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes

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Le Diko - en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes

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en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:organic aciduria

•

en:sweat test normal

•

en:normal igg levels

•

en:3-methylglutaric aciduria (3-mga)

•

en:decreased testosterone level

•

en:elevated plasma ornithine (~10-fold)

•

en:hyperammonemia

•

en:increased bone-specific alkaline phosphatase

•

en:increased serum insulin-like growth factor-1 (igf1, 147740)

•

en:normal red cell counts

•

en:serum prolactin decreased

•

en:increased csf taurine

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:increased serum pyruvate

•

en:duplication or deletion at 11p15.5

•

en:lysine-ketoglutarate reductase deficiency

•

en:low acth level

•

en:increased urinary tricarboxylic acid intermediates

•

en:methylmalonic aciduria

•

en:increased serum ammonia (group b)

•

en:hypermagnesiuria

•

en:elevated plasma levels of lp(a)

•

en:elevated apoa-i (1.8x normal) in homozygotes

•

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

•

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

•

en:2-oxoadipic aciduria

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:agammaglobulinemia

•

en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)

•

en:decreased eno3 activity

•

en:fasting ketosis

•

en:inclusion bodies (membrane-bound vacuoles) in fibroblasts

•

en:increased csf lactate during acute episodes

•

en:lower total cholesterol

•

en:low plasma triglyceride level

•

en:hepatic ornithine transcarbamylase deficiency

•

en:normal platelet aggregation response to arachidonic acid (aa)

•

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

•

en:serum calcium elevated

•

en:proteinuria (type ii, congenital)

•

en:normal platelet aggregation response to arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

•

en:normal or decreased serum erythropoietin (epo, 133170)

•

en:increased urinary excretion of cystine

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:increased level of globotriaosylceramide (gb3) in plasma and urinary sediment

•

en:telomere shortening

•

en:hypocalcemia (64% of adults)

•

en:hyperglycemias, postprandial

•

en:high m-component

•

en:elevated creatine kinase (in some patients)

•

en:cd4+/cd8+ ratio is reversed

•

en:decreased csf arginine

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:elevated crp

•

en:elevated inflammatory markers

•

en:high serum osmolality

•

en:high urinary orotic acid

•

en:homocystinuria (in some patients)

•

en:impaired oxidation of pyruvate

•

en:low urinary orotic acid

•

en:phospholipid antibody positive

•

en:phosphorylase kinase normal in muscle

•

en:elevated plasma stigmasterol

•

en:increased serum lactate (mild)

•

en:increased urinary sulfatide excretion

•

en:low serum alpha-fetoprotein (recessive)

•

en:no c8 antigen detected

•

en:serum mitochondrial autoantibodies

•

en:transferrin saturation increased

•

en:translocation of chromosomes 9 and 13

•

en:deficiency of laminin in basement membranes

•

en:elevated urine ceramide levels

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased plasma pristanic acid

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:glutaric aciduria

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material

•

en:decreased or absent d-bifunctional protein activity and protein

•

en:alkaline phosphatase decreased

•

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

•

en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations

•

en:prolonged bleeding time

•

en:decreased urinary sulfate

•

en:abnormal serum protein electrophoresis (elevated alpha-2 band)

•

en:increased serum manganese

•

en:decreased serum alpha-2 macroglobulin levels

•

en:normal serum transferrin profiles

•

en:low or undetectable c-peptide

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:increased urinary malic acid

•

en:normal cerebrospinal fluid

•

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

•

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

•

en:increased acetoacetate: beta-hydroxybutyrate ratio (group b)

•

en:defective bile acid metabolism

•

en:t-cell deficit

•

en:decreased transferrin increased serum iron

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased serum factor h (atypical hus)

•

en:disproportionate work-related increase in blood lactate and pyruvate

•

en:increased serum arylsulfatase a.

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased urinary tiglylglycine

•

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

•

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

•

en:methylmalonic aciduria, mild

•

en:reduced platelet aggregation response to adp, collagen, epinephrine

•

en:urocanase deficiency

•

en:increased 11-deoxycortisol

•

en:normal pyridinoline excretion in urine

•

en:normal or increased serum phosphate

•

en:increased serum plasminogen activator inhibitor-1 (pai1, 173360)

•

en:increased serum bile acids

•

en:shortened telomeres (in 1 of 2 patients)

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:decreased serum c3 (atypical hus)

•

en:decreased plasma total cholesterol

•

en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal)

•

en:elevated alkaline phosphatase (in one patient)

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:platelet function test normal

•

en:plasma aldosterone normal

•

en:osteocalcin increased

•

en:myoglobinuria (reported in 1 patient)

•

en:increased urinary n-acetylated amino acids

•

en:increased pristanic acid

•

en:elevated serum bile acids

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:contiguous gene deletion syndrome

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

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

•

en:normal serum cobalamin (vitamin b12)

•

en:abnormal lipid profile

•

en:increased serum bilirubin (in some patients)

•

en:spongy degeneration of brain on histology

•

•

en:normal or mildly decreased serum levels of free thyroid hormones

•

en:decreased activity of nadph oxidase

•

en:iron overload (in some patients)

•

en:increased urinary 2-ketoglutarate (variable)

•

•

en:increased 18-ohb to aldosterone ratio

•

en:hyperthreoninemia

•

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

•

en:elevated progesterone

•

en:elevated plasma alloisoleucine

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology

•

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

•

en:biotinidase deficiency

•

en:decreased insulin receptor binding

•

en:decreased or low-normal serum parathyroid hormone (pth)

•

en:decreased renal calcium excretion

•

en:increased creatinine

•

en:increased urinary 3-oh-butyric acid

•

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye

•

en:homozygous 122kb deletion 11p15-p14

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:elevated serum long-chain fatty acids

•

en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts

•

en:defect in oxidative phosphorylation

•

en:decreased red cell pyruvate kinase activity

•

en:decreased nasal nitric oxide (in some patients)

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:normal total urinary coproporphyrin

•

•

en:dyskinetic ciliary motility

•

en:electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished

•

en:high plasma triglyceride levels

•

en:hyperchloremia (mean >110 mm in both dominant and recessive)

•

en:hypoproteinemia due to hypercatabolism

•

en:increased serum pyruvate, mild

•

en:intermittent increase of urinary ethylmalonic acid

•

en:irregularly shaped sperm heads

•

en:low maximal oxygen uptake on exercise testing

•

en:defect in retrograde intraflagellar transport in cilia

•

en:parathyroid hormone level increased

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:serum iron normal

•

en:serum gastrin increased

•

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

•

en:proteinuria in those with cystic kidneys

•

en:increased csf lactate

•

en:elevated sweat chloride (some)

•

en:elevated androstenedione and testosterone

•

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

•

en:deficiency of alpha-1,4-glucosidase (acid maltase)

•

en:low fasting glucose (in some patients)

•

en:leukotriene c4 synthetase deficiency

•

en:loss of ciliary beat coordination

•

en:low absolute lymphocyte count

•

en:low alkaline phosphatase

•

en:mitochondria dna deletion

•

en:low or normal serum igm

•

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

•

en:low urinary cyclic amp response to pth administration

•

en:may have increased serum parathyroid hormone (pth)

•

en:microtubule disorganization in some cilia

•

en:lactate pyruvate ratio normal

•

en:monoclonal gammopathy

•

en:lactic acidemia (2p21del)

•

en:increased urinary sialylglycopeptides

•

en:increased serum cholesterol (in 3 of 10 patients)

•

en:ketonuria, acute

•

en:karyotype analysis normal finding

•

en:isovalericaciduria

•

en:increased very-long chain fatty acids

•

en:increased urinary prostaglandin e2

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased uric acid level

•

en:increased serum triiodothyronine (t3)

•

en:increased serum transferrin

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum prostaglandin e2

•

en:increased serum creatine kinase during episodes

•

en:neonatal hypocalcemia

•

en:myoglobinuria

•

en:serum triglycerides increased

•

en:normal dermal hydroxylysine content

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:abnormal urinary organic acids

•

en:abnormal liver enzymes, intermittent

•

en:laboratory abnormalities

•

en:unresponsive to acth stimulation

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

en:type iii collagen defect

•

en:tsh decreased

•

en:thymic hormone decreased

•

en:thrombocytopenia

•

en:systemic amyloidosis may occur

•

en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity

•

en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern)

•

en:increased renal tubular phosphate reabsorption

•

en:normal or mildly decreased arylsulfatase a activity

•

en:serum calcium normal

•

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

•

en:pyrimidinuria

•

en:predominance of the d-stereoisomer

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:platelet aggregation decreased

•

en:phosphaturia (in some)

•

en:partial deficiency of factor xiii(c)

•

en:panhypogammaglobulinemia

•

en:organic aciduria, mild (in some patients)

•

•

en:no elevation of free fatty acids

•

en:no cartilage staining with toluidine blue

•

en:normal urinary 17-ketosteroids

•

en:increased serum alpha-mannosidase

•

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

•

en:increased plasma levels of bile acid intermediates

•

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

•

en:decreased switched memory b cells

•

en:decreased serum thyroxine (t4)

•

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

•

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

•

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

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased dna excision repair

•

en:decreased csf pyridoxal 5-prime-phosphate (plp)

•

en:decreased csf folate

•

en:decreased complement factor d

•

en:decreased ciliary motility

•

en:decreased cerebrospinal fluid folic acid

•

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

•

en:decreased activities of multiple sulfatases

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:decreased acid sphingomyelinase activity

•

en:d-2-hydroxyglutaric aciduria

•

en:chylomicronemia, refractory fasting

•

en:chronic hypercapnia

•

en:chromosomal mosaicism in cultured cells

•

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

•

en:adenylosuccinase deficiency (finding)

•

en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts

•

en:abnormal urinary oligosaccharides

•

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

•

en:5-hiaa csf may be normal or decreased

•

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

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:defective glcnac-pi synthesis

•

en:dermatan and heparan sulfate excretion in urine

•

en:increased nasal-potential difference (some)

•

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

•

en:increased long-chain acylcarnitine

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased free erythrocyte protoporphyrin

•

en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp)

•

en:increased csf, plasma, and urinary 3-methoxytyrosine

•

en:inappropriately increased urine osmolality

•

en:hypophosphatemia (less common)

•

en:hypogammaglobulinemia

•

en:hyperprolinemia (5-10 times normal)

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hypercholesterolemia (in 75%)

•

en:hypercalciuria

•

en:hyperbilirubinemia

•

en:gonadotrophin increased

•

en:elevated 8-dehydrocholesterol

•

en:glyoxalase deficiency

•

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

•

en:gaucher disease, type 1

•

en:gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts

•

en:elevated urinary phosphoethanolamine

•

en:elevated testosterone

•

en:elevated serum iron

•

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

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated cerebrospinal fluid (csf) protein

•

en:elevated antinuclear antibody (ana) (speckled pattern)

•

en:absent axonal flare response to intradermal histamine injection

•

en:deletion of chromosome 18p11.2

•

en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

•

en:methylglutaconic aciduria, mild

•

en:no evidence of perinatal infection

•

en:normal urinary pterins

•

en:normal serum creatine kinase

•

en:normal or mildly increased thyroid-stimulating hormone (tsh)

•

en:normal male karyotype (46,xy)

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal csf neurotransmitters

•

en:normal collagen type i studies

•

en:normal calcium (female)

•

en:neutrophilia, both basal and during infections

•

en:nephrotic syndrome

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:mild elevation of triglycerides

•

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

•

en:paraproteinemia

•

en:low or absent iga levels

•

en:low 25-oh-vitamin d level

•

en:lack of lysosomal inclusions in visceral organs

•

en:isovaleric acidemia

•

en:isochromosome often missing in lymphocyte

•

en:iodide organification defect

•

en:increased urine vanillactic acid (vla)

•

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

•

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

•

en:increased urinary 2-methylbutyrylglycine

•

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

•

en:increased serum thyrotropin

•

en:increased serum lactate, particularly after exercise

•

en:increased serum and csf glycine

•

en:no mucopolysacchariduria

•

en:parathyroid hormone (pth) absent to low

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:severe amyloid angiopathy

•

en:very low leptin level

•

en:alpha 1 foetoprotein amniotic fluid increased

•

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

•

en:vacuolated lymphocytes

•

en:urine uric acid decreased

•

en:undetectable plasma dbh activity

•

en:t cells may be increased or decreased

•

•

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

•

en:thyroid dyshormonogenesis 5

•

en:thrombocytosis (in some patients)

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum copper decreased

•

en:parathyroid hormone normal

•

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

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:secondary decreases in complex i and iv activity

•

en:saposin a deficiency (finding)

•

en:reduced igg levels, particularly igg2 subclass

•

en:reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase)

•

•

en:protein total decreased

•

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

•

en:positive antinuclear antibody test

•

en:pms show deficient oxidation of debrisoquine

•

en:plasma aldosterone increased

•

en:phosphaturia may disappear after a long period of time

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

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

•

en:increased plasma pipecolic acid

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

en:decreased sulfite oxidase activity in fibroblasts

•

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

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased serum factor b (atypical hus)

•

en:decreased plasma arginine

•

en:decreased phytanic acid oxidase activity

•

en:decreased or absent ciliary motility

•

en:decreased methylcobalamin (mecbl)

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of cellular and mitochondrial fes-containing proteins

•

en:decreased intracellular fmr protein

•

en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells

•

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

•

en:decreased asparagine levels (in some patients)

•

en:decreased tetrasialotransferrin levels

•

en:decreased agt activity

•

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

•

en:cytogenetic deletion of chromosome 19q13

•

en:cytogenetic breakpoints range from 10q23.3-q26.2

•

en:cilia may also be static, with slow activity

•

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

•

en:chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:bleeding time normal

•

en:bilirubin may or may not be increased

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:atrial abnormalities on electrocardiogram

•

en:antithrombin iii decreased

•

en:decreased telomere length in lymphocytes

•

en:decreased high molecular weight plasma factor viii/ vwf multimers

•

en:hyperlysinemia

•

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

•

en:increased osmotic fragility

•

en:increased lactate in spinal fluid

•

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

•

en:dyslipidemia

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased csf threonine

•

en:hypouricemia

•

en:hypomagnesemia

•

en:hypoglycemia

•

en:hypocalcemia

•

en:hypertryptophanemia

•

en:hyperlipoproteinemia type i

•

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

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:granular osmiophilic deposits (grod) in cells

•

en:elevated urinary epinephrine

•

en:elevated alkaline phosphatase of bone origin

•

en:gamma-glutamylcysteine deficiency

•

en:galactosylation defects

•

en:elevated acth

•

en:ethylmalonic aciduria

•

en:enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue

•

en:elevated urinary hyaluronic acid levels

•

en:generalized aminoaciduria

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma acth

•

en:elevated gastrin concentration

•

en:elevated ast and ldh, especially infantile-onset

•

en:increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde

•

en:increased serum ferritin

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased serum alanine (1 patient)

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:hyperbilirubinemia, unconjugated, 20-30mg/dl

•

en:increased serum fgf23

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum osteocalcin

•

en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb)

•

en:increased plasma creatine

•

en:increased serum thrombopoietin may occur

•

en:increased serum uric acid

•

en:increased plasma proglucagon

•

en:hypercalciuria (in some patients)

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased erythropoietin

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:increased csf 3-methoxytyrosine (3-mt)

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:hypogammaglobulinemia (in some patients)

•

en:hypocalcemia (male)

•

en:hyperlipidemia

•

en:hyperhomocystinemia

•

en:hyperglycinuria (disorder)

•

en:hyperglycemia

•

en:hypercholesterolemia

•

en:increased urinary 2-methyl-3-hydroxybutyric acid

•

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

•

en:increased soluble il2 receptor

•

en:prolidase deficiency

•

en:increased urinary 3-oh-propionic acid

•

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

•

en:hepatic argininosuccinase deficiency

•

en:pseudohypertriglyceridemia in adult form

•

en:prothrombin time low

•

en:parathyroid hormone-related peptide (pthrp) absent to low

•

en:no increased sensitivity to oxidative species

•

en:normal serum plasmalogen

•

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

•

en:normal number of t and b lymphocytes

•

en:normal maltase, isomaltase, and sucrase activity

•

en:normal lysyl oxidase activity

•

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

•

en:neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

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

•

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

•

en:increased urinary dihydropyrimidines

•

en:low cd4+ count

•

en:increased urinary ketones

•

en:increased urinary potassium

•

en:intracellular accumulation of unesterified cholesterol

•

en:isovalerylglycinuria

•

en:leukocyte inclusion bodies (em) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm

•

en:low-to-normal csf lactate

•

en:low copper and ceruloplasmin

•

en:mild elevation of transaminases

•

en:low growth hormone levels

•

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

•

en:low to absent high density lipoprotein (hdl) (detroit 107680.0011)

•

en:median mean platelet volume (mpv) 12.5fl

•

en:median mean platelet volume (mpv) 20fl

•

en:methylsuccinic aciduria

•

en:high plasma citrulline (100-300 micromolar)

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern)

•

en:heparan sulfate excretion in urine

•

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

•

en:decreased galactokinase activity

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:decreased c3 activity

•

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

•

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

•

en:cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))

•

en:cystathioninemia

•

en:coombs positive hemolytic anemia

•

en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16

•

en:cell studies show increased dna breakage

•

en:cd4/cd8 ratio decreased

•

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

•

en:blood urea nitrogen increased

•

en:antineutrophil cytoplasmic antibody

•

en:aminoaciduria (rare)

•

en:decreased levels of component x protein of the pdh complex

•

en:alpha-fetoprotein normal

•

en:absent/reduced protein s and normal total proteins in heterozygote

•

en:abnormal urinary compounds

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal serum liver enzyme levels

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes during illness

•

en:abnormal liver enzymes (in some patients)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal liver enzymes, episodic

•

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

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormal cardiolipin subspecies composition

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:decreased leptin

•

en:decreased levels of serum vitamin b12

•

en:glycogen storage disease type vi

•

en:defect in chylomicron secretion

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:fluorescence of red blood cells by uv microscopy

•

en:ferritin decreased

•

en:farber lipogranulomatosis

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:eosinophilia, mild

•

en:elevated serum n,n-dimethylglycine (dmg)

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma and urine succinylacetone

•

en:elevated bilirubin (bilirubinemia)

•

en:elevated androstenedione

•

en:elevated 17-hydroxyprogesterone

•

en:dicarboxylic aciduria

•

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

•

en:decreased whole blood serotonin

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased very long-chain acyl-coa dehydrogenase protein and activity

•

en:decreased triiodothyronine level

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased telomerase activity

•

en:decreased serum thiamine pyrophosphate

•

en:decreased serum iga

•

en:decreased serum carnitine in acute stage

•

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

•

en:decreased plasma and urinary ornithine

•

en:decreased or absent serum citrulline

•

en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid

•

en:decreased or absent apolipoprotein a-i

•

en:decreased numbers of t regulatory cells

•

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

•

en:pyruvic acidemia

•

•

en:reduced bending capacity of cilia

•

en:increased urinary fumaric acid

•

en:low plasma methionine

•

en:low plasma arginine

•

en:low or normal serum erythropoietin

•

en:low or absent luteinizing hormone (lh)

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low-to-normal platelet count

•

en:low-molecular-weight proteinuria

•

en:long-chain ketonuria

•

en:lactate high

•

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

•

en:intracellular granular material on ultrastructural analysis

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary thymine

•

en:increased urinary s-sulfocysteine

•

en:increased serum s-adenosylhomocysteine

•

en:low to very low hdl cholesterol

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum gm-csf

•

en:increased serum glycerol

•

en:increased serum creatine kinase in acute stage

•

en:increased serum creatine kinase (1 family)

•

en:increased serum c-reactive protein (crp, 123260)

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma proinsulin

•

en:increased plasma progastrin

•

en:increased peripheral blood monocytes

•

en:increased intracellular fmrp mrna

•

en:increased histidine in blood, urine, and csf

•

en:increased csf homovanillic acid (hva)

•

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

•

en:metachromasia of white blood cells and fibroblasts

•

en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells

•

en:normal tyrosinase

•

en:reduced ferrochelatase activity

•

en:very low density lipoprotein increased

•

en:variable respiratory chain enzyme deficiency

•

en:transient hyperlipidemia

•

en:t1 transport protein (glucose-6-phosphate translocase) defect

•

en:shortened telomeres (1 patient)

•

en:serum cholesterol raised

•

en:serum bilirubin increased

•

en:reticulocytosis

•

en:prolonged partial thromboplastin time (ptt)

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:positive urinary bratton-marshall test

•

en:patient cells show increased chromosome breakage

•

en:no hyperuricemia

•

en:normal to mildly increased mucopolysacchariduria

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:normal sweat electrolytes

•

en:normal serum lipoprotein levels

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal platelet aggregation response to epinephrine, arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin

•

en:normal plasma phytanic acid

•

en:normal lactate (hcs)

•

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

•

en:normal apoa-ii levels in homozygotes

•

en:normal-elevated plasma testosterone (male range)

•

en:myelin basic protein measurement, spinal fluid

•

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

•

en:mild hyperammonemia

•

en:mildly elevated hdl in heterozygotes

•

en:mildly decreased phosphaturic response to pth administration has been reported in some cases

•

en:inactive mutant form of red cell carbonic anhydrase b in one sibship

•

en:partial deficiency of factor xiii (less common)

•

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

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

•

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

•

en:decreased activity of mitochondrial complex i

•

en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%)

•

en:creatine phosphokinase increased

•

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

•

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

•

•

en:anti-factor viii positive

•

en:aminoaciduria (1 patient)

•

en:absent anti-insulin receptor antibodies

•

en:absence of hepatic udp-glucuronyl-transferase

•

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

•

en:abnormal cartilage collagen on em

•

en:decreased erythrocyte 2,3-diphosphoglycerate (2,3-dpg)

•

en:abacterial leukocyturia

•

en:1.61- and 1.76-mb microduplication of 3q29

•

en:widespread interstitial fibrosis (visceral organs)

•

en:vitamin b12 deficiency (in some patients)

•

en:very long chain fatty acid accumulation

•

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

•

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

•

en:t-lymphocytopenia

•

en:serum transaminase increased

•

en:serum phosphate normal

•

en:serum complement decreased

•

en:sce normal in heterozygotes

•

en:hyponatremic dehydration, rarely

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:decreased circulating renin level

•

en:undetectable dopamine beta-hydroxylase (dbh) protein in plasma, csf, or sympathetic fibers

•

en:decreased levels of cpt2 protein

•

en:elevated ammonia

•

en:hyperglycinemia (1 patient)

•

en:hypoalphalipoproteinemia

•

en:decreased metabolism of thiopurine drugs

•

en:hypercalciuria (in childhood)

•

en:homocysteinemia (in some patients)

•

en:high serum inosine levels

•

en:hemizygous deletion at 7q11.23

•

en:fasting hypoglycemia (early in disease course)

•

en:elevated serum uric acid concentrations

•

en:elevated serum transaminase levels

•

en:elevated serum phosphate in heterozygotes

•

en:elevated serum insulin-to-c-peptide ratio

•

en:elevated serum alpha-fetoprotein

•

en:elevated csf glycine

•

en:hemoglobin f increased

•

en:elevated 2-ketoglutarate (urine)

•

en:decreased tissue total and free carnitine

•

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

•

en:decreased plasma free carnitine

•

en:decreased plasma serine

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

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

•

en:decreased serum rt3

•

en:decreased or absent dihydropteridine reductase activity

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:decreased von willebrand factor

•

en:decreased xanthine dehydrogenase activity

•

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

•

en:deficiency or absence of p91-phox protein

•

en:decreased urinary excretion of uromodulin

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased tissue levels of free fatty acids

•

en:increased urinary carnitine

•

en:increased urinary cortisol/cortisone ratio

•

en:increased urinary sulfite

•

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

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary phospholipids

•

en:iron deficiency

•

en:increased urinary lactate

•

en:increased oxygen affinity (e.g. hb nunobiki 141800.0109)

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum iduronate sulfatase (10-20x)

•

en:increased serum bile acid concentration during pregnancy, resolves postpartum

•

en:increased serum, urinary, and csf saccharopine (in some patients)

•

en:increased plasma renin activity

•

en:increased phytanic acid in body tissues and fluids

•

en:increased igg level

•

en:increased iga level

•

en:increased fibroblast free sialic acid

•

en:increased csf interferon alpha

•

en:low levels of serum mg(2+) in the absence of other electrolyte disturbances

•

en:increased creatine kinase, mild to moderate

•

en:immotile or weakly motile cilia

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:no hyperphenylalaninemia

•

en:low or absent igm levels

•

en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration

•

en:rheumatoid factor positive (finding)

•

en:hypoglycosylation of plasma glycoproteins

•

en:reticulocyte count increased

•

en:reduced erythrocyte gs activity

•

en:presence of vacuoles on muscle biopsy

•

en:poor mitogenic response to growth factors

•

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

•

en:plasmalogen deficiency

•

en:phytanic acid increased

•

en:phosphate normal

•

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

•

en:normal urinary orotic acid

•

en:low or absent prolactin (pl)

•

en:normal to slightly high alkaline phosphatase

•

en:normal serum bile acids

•

en:normal or increased serum phytanic acid

•

en:normal or increased serum creatine kinase

•

en:mildly decreased serum creatinine

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:low to normal plasma methionine

•

en:low serum magnesium

•

en:low rai (radioactive iodine) uptake

•

en:low or undetectable insulin

•

en:low or absent thyrotropin (tsh)

•

en:hypomethioninemia

•

en:decreased serum ferritin

•

en:hypocalcemia, transient

•

en:bone marrow hypoplasia (in some patients)

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:defective (ca2+) mobilization in t cells

•

en:decreased plasma esterified cholesterol

•

en:decreased methionine synthase activity

•

en:decreased glutamine in bodily fluids

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased circulating cortisol level

•

en:decreased antithrombin iii (rare)

•

en:creatine phosphokinase serum increased

•

en:cholesterol low

•

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

•

en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)

•

en:dhea sulfotransferase below limit of detection

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:aminoaciduria

•

en:alkaline phosphatase serum increased

•

en:absent ch50 activity in complete c4 deficiency

•

en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986

•

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

•

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

•

en:abnormal nuclear morphology

•

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

•

en:4-hydroxyphenyllactic aciduria

•

en:thyroid dyshormonogenesis 4

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:hypoalbuminemia (in 83%)

•

en:galactosuria without galactosemia

•

en:hypertriglyceridemia (rare)

•

en:hyperthreoninuria

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hypergammaglobulinemia

•

en:hydroxyprolinuria

•

en:homocysteinemia

•

en:hepatic glycine cleavage defect

•

en:hemizygous deletion at 4p16.3

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:glomerular filtration rate decreased

•

en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:distal xp22.3 segmental monosomy

•

en:fasting hyperinsulinemia

•

en:factor viii deficiency

•

en:excessive urinary 5-oxo-l-proline

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated sepiapterin in csf

•

en:elevated plasma luteinizing hormone (lh)

•

en:elevated il1-beta

•

en:elevated free carnitine

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency

•

en:routine liver function tests normal

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:translocation between 18q21 and 14q32

•

en:ketonuria (1 patient)

•

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

•

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

•

en:normal eosinophil peroxidase activity

•

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

•

en:myoglobinuria with extreme exertion

•

en:mildly increased serum lactate

•

en:medium chain dicarboxylic aciduria

•

en:low serum calcium

•

en:low apolipoprotein

•

en:lactic acidosis

•

en:increased urinary oxylate

•

en:normal serum parathyroid hormone (pth)

•

en:increased urinary neopterin

•

en:increased urinary isobutyryl glycine

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary 2-butanone

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:increased total bilirubin may occur

•

en:increased sodium-potassium pump activity

•

en:increased serum lactate during metabolic crisis

•

en:increased serum ige

•

en:increased serum ferritin (in some patients)

•

en:increased serum creatine kinase (patient a)

•

en:type i, classic, decreased antithrombin iii levels

•

en:normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol)

•

en:increased il1b increased soluble il2r

•

en:serum aldosterone elevated

•

en:variable hyperlipidemia

•

en:urine odor, maple syrup

•

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

•

en:uric acid normal

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:tyrosine iodination defect

•

en:transient neonatal hypocalcemia (2p21del)

•

en:some fragmented or disrupted golgi

•

en:some cilia show abnormal beating patterns or immotility

•

en:skeletal muscle shows decreased activities of mitochondrial respiratory complexes i, iii, iv, and v

•

en:serum cortisol decreased

•

en:schirmer test shows alacrima

•

en:no lactic acidosis

•

en:rheumatoid factor negative

•

en:reduced serum uric acid

•

en:reduced erythrocyte glucose/hexose transport

•

en:reduced beating amplitudes in cilia

•

en:rare occurrences of 9+0 or 8+1 cilia

•

en:prothrombin time increased

•

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

•

en:presence of glial fibrillary acidic proteins (gfap) in astrocytes

•

en:premature separation of centromeric heterochromatin

•

en:platelet factor 4 decreased

•

en:plasma ammonia not elevated

•

en:increased serum alanine

•

en:normal serum and mucosal iga

•

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

•

en:blood pyruvic acid increased

•

en:decreased mitochondrial complex v assembly

•

en:decreased levels of plasma vwf antigen

•

en:decreased fibroblast alpha-mannosidase

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:decreased csf serine

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased circulating aldosterone level

•

en:decreased adenosylcobalamin

•

en:decreased activity of ppt1

•

en:decreased acid beta galactosidase protein and activity

•

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

•

en:amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:accumulation of cholesterol esters in various tissues

•

en:absent igg2 subclass

•

en:absent/reduced free proteins and absent total protein s

•

en:abnormal secretin test

•

en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)

•

en:4-hydroxyphenylactic aciduria

•

en:3-methylglutaconic aciduria

•

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

•

en:urinary excretion of mucopolysaccharides

•

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

•

en:inappropriately low urine osmolality

•

en:decreased or absent gch1 activity

•

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

•

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

•

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

•

en:disturbed visual and brainstem auditory evoked responses indicative of cns demyelination

•

en:iiga and igg antigliadin antibodies (aga)

•

en:hypoalbuminemia

•

en:hyperprolinemia type 1

•

en:hyperphosphatemia

•

en:hyperoxaluria

•

en:hyperlactemia

•

en:hypercholesterolemia (disorder)

•

en:hydrocortisone decreased

•

en:hepatic lipase deficiency (disorder)

•

en:heparin cofactor ii deficiency (disorder)

•

en:immunoglobulin antibodies present

•

en:fumarase deficiency

•

en:elevated liver transaminases

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated gamma-glutamyltransferase

•

en:elevated hepatic transaminases

•

en:electrocardiogram abnormal

•

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

•

en:elevated total iron-binding capacity

•

en:elevated urine unsulfated chondroitin sulfate

•

en:fibrinogen decreased

•

en:elevated serum acid phosphatase

•

en:liver function tests normal

•

en:lack of ciliary motility

•

en:large spermatozoa

•

en:little to absent aspartylglucosaminuria activity

•

en:methemoglobin concentration 12 to 19%

•

en:low plasma free and total carnitine

•

en:low csf creatine

•

en:low free carnitine

•

en:low serum levels of ketone bodies

•

en:markedly increased serum creatine kinase

•

en:karyomegaly may be found in other visceral organs

•

en:keratan sulfate excretion in urine that decreases with age

•

en:increased tissue levels of triglycerides

•

en:increased urinary urate

•

en:increased urinary succinic acid

•

en:increased urinary and serum glycine

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary 2-oxoglutaric acid

•

en:increased susceptibility to ebv infection

•

en:increased serum pyruvate in acute stage

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum iduronate sulfatase

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased serum acylcarnitine during febrile crisis

•

en:microsomal hmg-coa reductase decreased

•

en:microduplication of chromosome 5p13

•

en:xanthine nephrolithiasis

•

en:mild-moderate prolonged bleeding time

•

en:resistance to activated protein c due to factor v leiden

•

en:very low igg

•

en:variably increased serum creatine kinase

•

en:urine cortisol, increased

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:type 1 collagen overmodification

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

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

•

en:subtelomeric deletion of long arm of chromosome 3 (3q29)

•

en:serum testosterone level normal

•

en:serum folate low

•

en:serum carnitine deficiency

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:mildly elevated creatine phosphokinase

•

en:polymorphonuclear leukocytosis, episodic

•

en:platelet glycoprotein iiia deficiency

•

en:phosphaturia

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:occasional hypomagnesemia

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal lysyl hydroxylase activity

•

en:normal axonal flare response after intradermal histamine injection

•

en:normal activity of von willebrand factor-cleaving protease

•

en:myoglobinuria after exertion

•

en:molybdenum cofactor deficiency

•

en:increased plasma phospholipids

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846557 • caches: c1=8 c2=1003 c3=1

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