Le Diko - en:accumulation of cholesterol esters in various tissues

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Le Diko - en:accumulation of cholesterol esters in various tissues

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le dictionnaire d'associations lexicales
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en:accumulation of cholesterol esters in various tissues

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:very low igg

•

en:chylomicronemia, refractory fasting

•

en:serum prolactin increased

•

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

•

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

•

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

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)

•

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

•

en:very low iga

•

en:biotinidase deficiency

•

en:cerebrospinal fluid oligoclonal bands

•

en:serum calcitonin, increased

•

en:decreased csf arginine

•

en:increased disialotransferrin and asialotransferrin levels

•

en:decreased serum ceruloplasmin

•

en:normal serum folate levels

•

en:multiple autoantibodies

•

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

•

en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects

•

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

•

en:high sister chromatid exchange (sce) rate

•

en:elevated serum uric acid concentrations

•

en:elevated 1,25(oh)2 d3

•

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

•

en:increased plasma and urinary pipecolic acid

•

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

•

en:low serum cortisol

•

en:increased urinary excretion of gamma-aminobutyric acid (gaba)

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:hypergammaglobulinemia

•

en:hyperuricuria

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

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

•

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

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:reticulocyte count increased

•

en:neonatal hypocalcemia

•

en:agammaglobulinemia

•

en:elevated prothrombin time

•

en:cholesterol low

•

en:microdeletion 22q11.2

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:elevated serum parathyroid hormone (pth)

•

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

•

en:elevated il6

•

en:decreased thyroxine level

•

en:decreased serum haptoglobin (in some patients)

•

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

•

en:decreased plasma serine

•

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

•

en:glycogen storage disease type vi

•

en:igm deficiency

•

en:iga antiendomysial antibodies (ema)

•

en:hydroxyprolinuria

•

en:foam cells in bone marrow and renal glomeruli

•

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

•

en:galactosemia

•

en:elevated testosterone

•

en:elevated serum levels of adenosine

•

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

•

en:increased urinary, plasma, and csf d-2-hydroxyglutaric acid

•

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

•

en:prothrombin time low

•

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

•

en:hypercalcemia

•

en:normal serum transferrin profiles

•

en:normal renin level

•

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

•

en:low absolute lymphocyte count

•

en:increased urinary levels of maoa substrates (endogenous bioamines)

•

en:fibrinogen decreased

•

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

•

en:decreased glutamine in bodily fluids

•

en:anti-iga antibodies commonly present

•

en:phosphate normal

•

en:mitochondrial deletions

•

en:normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin

•

en:elevated il1-beta

•

en:increased serum alanine (1 patient)

•

en:lysosomal-like storage vacuoles in various tissues

•

en:median mean platelet volume (mpv) 12.5fl

•

en:normal igm levels

•

en:serum c-peptide and glucagon levels measurable

•

en:variably increased serum creatine kinase

•

en:impaired synthesis of fibroblast sulfated proteoglycans

•

en:increased urine oligosaccharides

•

en:liver transaminases normal to slightly increased

•

•

en:decreased phosphoglucomutase 1 (pgm1) activity (less than 10% of normal values)

•

en:marked elevation of erythrocyte sedimentation rate

•

en:abnormal cardiolipin subspecies composition

•

en:complex organic aciduria

•

en:decreased beta-thromboglobulin

•

en:decreased factor xi

•

en:decreased ubiquinone-10

•

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

•

en:homocystinemia

•

en:increased renal tubular phosphate reabsorption

•

en:increased urinary cortisol/cortisone ratio

•

en:neutropenia (in 1 patient)

•

en:variable respiratory chain enzyme deficiency

•

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

•

en:mean platelet volume (mpv) 12.6fl

•

en:mild elevation of cholesterol

•

en:normal collagen type i studies

•

en:normal serum biotin concentration

•

en:no dicarboxylic aciduria

•

en:serum iron normal

•

en:shortened telomeres (in 1 of 2 patients)

•

en:raised tsh level

•

en:increased plasma homogentisic acid (hga)

•

en:presence of pc mrna

•

en:normal iga levels

•

en:increased serum thrombopoietin may occur

•

en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity

•

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

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:decreased plasma apolipoprotein c-ii

•

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

•

en:aminoaciduria (rare)

•

en:abnormal columnization of chondrocytes

•

en:thyroid hormones increased

•

en:creatine phosphokinase serum increased

•

en:normal serum phytanic and pristanic acid

•

en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33

•

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

•

en:serum aldosterone elevated

•

en:pipecolic acid accumulation.

•

en:serum folate low

•

en:increased urinary, plasma, and csf l-2-hydroxyglutaric acid

•

en:increased serum lactate, particularly after exercise

•

en:increased plasma phospholipids

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:elevated plasma campesterol

•

en:elevated branched-chain amino acids (in most patients)

•

en:alkaline phosphatase normal

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:defect in retrograde intraflagellar transport in cilia

•

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

•

en:increased plasma renin activity

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:phytanic acid increased

•

en:prolidase deficiency

•

en:submucosal macrophages filled with sphingolipids

•

en:heparin cofactor ii deficiency (disorder)

•

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

•

en:increased urinary tricarboxylic acid intermediates

•

en:inner and outer dynein arm defects, variable

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:no chromosomal breakage

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:abnormal liver enzymes in those with hepatic cysts or fibrosis

•

en:hyponatremia in infancy

•

en:4-hydroxyphenylpyruvic aciduria

•

en:irregularly shaped sperm heads

•

en:increased serum s-adenosylmethionine

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased phytanic acid in body tissues and fluids

•

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

•

en:elevated urine ceramide levels

•

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

•

en:decreased levels of plasma vwf antigen

•

en:decreased activity of triosephosphate isomerase

•

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

•

en:decreased activity of the pdh phosphatase

•

en:creatine decreased

•

en:normal levels of complement factor h, but impaired function

•

en:decreased antithrombin iii (rare)

•

en:increased serum bile acids

•

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

•

en:reticulocytosis

•

en:medium chain dicarboxylic aciduria

•

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

•

en:increased serum creatine kinase in acute stage

•

en:serum creatine kinase may be normal

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

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

•

en:glutathione deficiency

•

en:elevated alkaline phosphatase (in one patient)

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:elevated plasma methionine (methioninemia)

•

en:low fasting glucose (in some patients)

•

en:increased serum beta-carotene

•

en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

•

en:liver phosphorylase kinase (phk) deficiency

•

en:ketoses, metabolic

•

en:ketonuria, acute

•

en:increased urinary orotic acid (in some patients)

•

en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts

•

en:increased urinary catecholamines

•

en:increased urinary 2-hydroxybutyrate

•

en:increased serum uric acid

•

en:increased serum lactate (patient a)

•

en:increased serum growth hormone levels

•

en:increased serum direct bilirubin

•

en:increased chromosomal breakage

•

en:increased plasma long-chain acylcarnitines

•

en:increased or normal serum growth hormone (gh, 139250)

•

en:increased nasal-potential difference (some)

•

en:increased il6, episodic

•

en:increased disialo- and asialotransferrin

•

en:increased csf lactate during acute episodes

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:increased c10:2-carnitine

•

en:increased 18-oxocortisol

•

en:inappropriately increased urine osmolality

•

en:impaired oxidation of pyruvate

•

en:hypobetalipoproteinemias

•

en:hyperthreoninuria

•

en:hyperprolinemia (5-10 times normal)

•

en:low or absent igm levels

•

en:normal g(s)-alpha levels (139320)

•

en:methylmalonic aciduria, mild

•

en:premature chromosome condensation

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:t-lymphocytopenia

•

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

•

en:skewed x-inactivation in females

•

en:serum testosterone decreased

•

en:serum cortisol elevated

•

en:serum calcium normal

•

en:serum alkaline phosphatase normal or mildly increased

•

en:serum albumin low result

•

en:serum acid phosphatase normal

•

en:rhabdomyolysis in response to alcohol

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:protein c decreased

•

en:prolonged prothrombin and partial thromboplastin times

•

en:platelet count normal

•

en:methylsuccinic aciduria

•

en:plasma triglycerides increased

•

en:plasma aldosterone normal

•

en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)

•

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

•

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

•

en:oligospermia or azoospermia

•

en:normal serum erythropoietin (epo, 133170)

•

en:normal lysyl oxidase activity

•

en:normal lysosomal hydrolases

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

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

•

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

•

en:mildly elevated blood ammonia

•

en:mildly abnormal glycosylation of serum transferrin, type 1 pattern

•

en:hypernatriuria

•

en:glyoxalase deficiency

•

en:hyperhomocystinemia

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased serum acth

•

en:decreased plasma esterified cholesterol

•

en:decreased or normal serum c3

•

en:decreased or absent udp-glucuronyl-transferase activity

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

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

•

en:decreased erythrocyte plasmalogen

•

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

•

en:decreased csf pyridoxal

•

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

•

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

•

en:decreased cholesterol (less common)

•

en:decreased activity of mitochondrial complex i

•

en:decreased serum factor h (atypical hus)

•

en:decreased activity of dihydrofolate reductase

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:chronic hypoxemia

•

en:bleeding time normal

•

en:bilirubin may or may not be increased

•

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

•

en:acute hyperammonemia

•

en:absent alkyl-dhap synthase activity

•

en:abnormal liver enzymes during illness

•

en:abnormal liver enzymes (in some patients)

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:4-hydroxyphenyllactic aciduria

•

en:'compensated hypothyroidism' with increased tsh and normal t4

•

en:transient eosinophilia in first decade

•

en:decreased serum carnitine in acute stage

•

en:decreased serum haptoglobin

•

en:hypercalciuria (in some patients)

•

en:elevated lathosterol

•

en:hyperammonemia

•

en:high ft3/ft4 ratio

•

en:hepatic glycine cleavage defect

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:glucosuria, mild, intermittent

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:excessive urinary 5-oxo-l-proline

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:elevated serum parathyroid hormone (pth) level

•

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

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:decreased serum insulin-like growth factor-1 (igf1)

•

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

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:elevated afp (endodermal sinus tumor)

•

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

•

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

•

en:direct hyperbilirubinemia

•

en:dermatan and heparan sulfate excretion in urine

•

en:deficient ribose-s-phosphate isomerase (rpi) in fibroblasts

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

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

•

en:decreased urinary calcium and phosphate excretion

•

en:decreased triiodothyronine level

•

en:decreased thrombospondin

•

en:decreased serum thyroxine (t4)

•

en:transaminitis

•

en:decreased serum cobalamin

•

en:type i, classic, decreased antithrombin iii levels

•

en:increased tissue levels of triglycerides

•

en:low level of c4 and c2

•

en:low cholesterol esterification rates

•

en:low-to-normal platelet count

•

en:little to absent aspartylglucosaminuria activity

•

en:ketonuria (1 patient)

•

en:ketoacidosis

•

en:intermittent ethylmalonic aciduria

•

en:indirect hyperbilirubinemia

•

en:increased urinary s-sulfocysteine

•

en:increased urinary oxylate

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary carnitine esters

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased serum s-adenosylhomocysteine

•

en:low plasma free and total carnitine

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum ige

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased csf and plasma gaba

•

en:increased csf, plasma, and urinary l-dopa

•

en:increased blood alanine

•

en:impaired mitochondrial translation

•

en:hypoglycemia

•

en:hypocholesterolemia

•

en:hypoalphalipoproteinemia

•

en:hyperthreoninemia

•

en:hyperprolinemia type 1

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low plasma tryptophan (inflammatory type b)

•

en:hyperchloremia (mean 109 mm)

•

en:reduced beating amplitudes in cilia

•

en:vacuolated lymphocytes

•

en:urinary loss of potassium, sodium, calcium, and chloride

•

en:t cells may be increased or decreased

•

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

•

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

•

en:thrombocytopenia, mild-moderate (60-100 x 10(9)/l)

•

en:spongy degeneration of brain on histology

•

en:serum creatine kinase 20-70 times normal

•

en:serum copper decreased

•

en:serum and csf lactate may be increased

•

en:saposin a deficiency (finding)

•

en:reduced unsaturated serum cobalamin binding capacity

•

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

•

en:reduced igg levels, particularly igg2 subclass

•

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

•

en:markedly increased serum creatine kinase

•

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

•

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

•

en:paraproteinemia

•

en:other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21

•

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

•

en:normal free urinary cortisol

•

en:normal baseline cortisol

•

en:normal activity of von willebrand factor-cleaving protease

•

en:nephrotic syndrome

•

en:mucopolysaccharidosis type iiid

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mitochondrial malic enzyme reduced

•

en:microsomal hmg-coa reductase decreased

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:hyperinsulinemia

•

•

en:high serum inosine levels

•

en:citrullinemia

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased respiratory chain complex iii activity in multiple tissues

•

en:decreased red cell pyruvate kinase activity

•

en:decreased plasma free carnitine

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased or absent histidase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased clot retraction

•

en:decreased carnitine in serum, muscle, heart, and liver

•

en:decreased activity of mitochondrial complex ii (succinate dehydrogenase)

•

en:decreased activity of galactocerebrosidase

•

en:coarse metachromatic granules in white blood cells

•

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

•

en:decreased tissue total and free carnitine

•

en:blood glucose normal

•

en:aneuploidy of the x chromosome

•

en:alkaline phosphatase decreased

•

•

en:accumulation of guanidinoacetate in brain

•

en:absent or severely reduced levels of serum immunoglobulins

•

en:absence of cpt ii protein

•

en:abnormal transaminases (1 patient)

•

en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:2-aminoadipic aciduria

•

en:widespread interstitial fibrosis (visceral organs)

•

en:hereditary fructose intolerance

•

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

•

en:decreased telomere length in lymphocytes

•

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

•

en:decreased transferrin increased serum iron

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:hair bulb tyrosinase present

•

en:glutaric acidemia type 1

•

en:granular osmiophilic deposits (grod) in cells

•

en:galactosuria

•

en:fumarase deficiency

•

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

•

en:elevated urinary hyaluronic acid levels

•

en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside)

•

en:elevated urinary 3-methylglutarate

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated total bilirubin

•

en:elevated serum transaminase levels

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated total iron-binding capacity

•

en:elevated serum alpha-fetoprotein

•

en:elevated fasting triglycerides

•

en:deficiency or absence of p91-phox protein

•

en:elevated plasma stigmasterol

•

en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria)

•

en:elevated ammonia

•

en:elevated ast and ldh, especially infantile-onset

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:elevated gamma-glutamyltransferase

•

en:elevated plasma estrogen

•

en:elevated plasma levels of lp(a)

•

en:elevated gastrin concentration

•

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

•

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

•

en:elevated plasma acth

•

•

en:nonketotic hypoglycemia

•

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

•

en:monoclonal gammopathy

•

en:leukotriene c4 synthetase deficiency

•

en:median mean platelet volume (mpv) 20fl

•

en:may have increased serum parathyroid hormone (pth)

•

en:low total serum protein

•

en:low plasma triglyceride level

•

en:low plasma citrulline

•

en:low copper and ceruloplasmin

•

en:long-chain dicarboxylic aciduria

•

en:mild hypertriglyceridemia

•

en:increased serum ferritin

•

•

en:iodine depletion

•

en:increased urinary potassium

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary excretion of coproporphyrin i

•

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

•

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

•

en:increased triglycerides (less common)

•

en:increased serum transferrin

•

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

•

en:increased serum osteocalcin

•

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

•

en:increased serum glutamine

•

en:increased serum creatine kinase (less common)

•

en:normal complex ii activity

•

en:presence of serum anti-lu3 antibodies

•

en:normal leukocyte and platelet counts

•

en:reduced erythrocyte gs activity

•

en:3-methylglutaric aciduria

•

en:increased serum acylcarnitines

•

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

•

en:vitamin b12 deficiency (in some patients)

•

en:variegated translocation mosaicism in cultured fibroblasts

•

•

en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340)

•

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

•

en:sweat test normal

•

en:serum iron low (finding)

•

en:serum complement decreased

•

en:serum chloride level decreased (finding)

•

en:rheumatoid factor positive (finding)

•

en:reduced bending capacity of cilia

•

en:normal or increased serum creatine kinase

•

en:pseudohypertriglyceridemia in adult form

•

en:propionic acidemia

•

en:positive kveim-siltzbach skin test

•

en:poor mitogenic response to growth factors

•

en:platelet aggregation decreased

•

en:partial deficiency of factor xi (less common)

•

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

•

en:no hyperphenylalaninemia

•

en:normal to prolonged bleeding time

•

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

•

en:normal serum complement levels

•

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

•

en:normal or mildly increased serum creatine kinase

•

en:normal or increased serum phytanic acid

•

en:increased serum acyl carnitines

•

en:decreased serum iga

•

en:increased plasma proglucagon

•

en:axonemes show normal structure

•

en:decreased glomerular filtration rate (gfr)

•

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

•

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

•

en:decreased asparagine levels (in some patients)

•

en:decreased adenosylcobalamin

•

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

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:cystathionine beta-synthase deficiency disease

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

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

•

en:cerebrospinal fluid lymphocytosis

•

en:borderline elevated low-density lipoprotein

•

•

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

•

en:decreased natural killer cells

•

en:aminoaciduria (less common)

•

en:alanine aminotransferase increased

•

en:adrenocorticotropic hormone, increased

•

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

•

en:absent platelet agglutination in presence of ristocetin

•

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

•

en:abnormal urinary oligosaccharides

•

en:abnormal serum liver enzyme levels

•

en:abnormal serum glycoproteins

•

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

•

en:abnormal acylcarnitine profiles

•

en:85-90% dgs patients have deletion of 22q11.2

•

en:abnormal eeg in 25% hospitalized patients

•

en:decreased levels of the e2 subunit protein

•

en:decreased serum androgens

•

en:increased fas ligand

•

•

en:increased csf interferon alpha

•

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

•

en:increased bone-specific alkaline phosphatase

•

en:hypomethioninemia

•

en:hypogammaglobulinemia (in some patients)

•

en:hypocitraturia

•

en:hyperuricemia

•

en:hyperglycemia

•

en:hypercholesterolemia (10%)

•

en:heparan sulfate excretion in urine

•

en:hemophilia b

•

en:hematuria, macroscopic and microscopic

•

•

en:generalized amyloid deposition

•

en:defect in chylomicron secretion

•

en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

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

•

en:farber lipogranulomatosis

•

en:exercise-induced myoglobinuria in adults

•

en:elevated erythrocyte adenosine deaminase activity

•

en:elevated crp

•

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

•

en:electrolyte disturbances from intractable diarrhea

•

en:dyskinetic ciliary motility

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

en:4-hydroxyphenylactic aciduria

•

en:increased urinary hga

•

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

•

en:iodide organification defect

•

en:normal concentration of parathyroid hormone

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:neonatal hyperbilirubinemia

•

en:mildly increased serum lactate

•

en:mildly elevated urinary mevalonic acid

•

en:low serum uric acid

•

en:low serum igg and iga

•

en:low or normal serum erythropoietin

•

en:low apolipoprotein

•

en:lack of lysosomal inclusions in visceral organs

•

en:keratan sulfate excretion in urine that decreases with age

•

en:karyomegaly may be found in other visceral organs

•

en:isochromosome often missing in lymphocyte

•

en:interstitial or terminal deletion of 18q

•

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

•

en:increased urinary taurine

•

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

•

en:increased urinary methylcitrate

•

en:increased urinary malic acid

•

en:increased urinary excretion of cystine

•

en:increased urinary dicarboxylic acid, transient

•

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

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased uric acid with exercise

•

en:increased serum triglycerides (in some patients)

•

en:increased serum pyruvate

•

en:increased serum lactate during metabolic crisis

•

en:increased serum citrulline (group b)

•

en:normal csf neurotransmitters

•

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

•

en:increased serum and urinary 2-oxoglutarate

•

en:serum calcium elevated

•

en:absent dystrophin on muscle biopsy

•

en:vitamin k deficiency

•

en:very low leptin level

•

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

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

en:transient neonatal hypocalcemia (2p21del)

•

en:serum triglycerides normal

•

en:serum transferrin glycosylation is normal

•

en:serum pristanic acid increased

•

en:serum phosphate concentration below normal

•

en:serum gastrin increased

•

en:serum ferritin hyperglycosylation

•

en:serum cholesterol raised

•

en:serum c-reactive protein may be increased

•

en:normal serum cobalamin (vitamin b12)

•

en:serum acylcarnitine returns to borderline high or normal after resolution of fever

•

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

•

•

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

•

en:platelet factor 4 decreased

•

en:phosphorylase kinase deficiency in liver and muscle

•

en:patient cells show increased chromosome breakage

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:no mucopolysacchariduria

•

en:no c8 antigen detected

•

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

•

en:increased serum beta-hexosaminidase

•

en:very low density lipoprotein increased

•

en:increased serum alanine

•

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

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:decreased serum levels of maoa products

•

en:decreased serum and muscle coenzyme q

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased plasminogen antigen

•

en:decreased plasma zinc levels

•

en:decreased methylcobalamin (mecbl)

•

en:decreased long-chain fatty acid oxidation

•

en:decreased levels of certain coagulation factors

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:decreased decr enzyme activity

•

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

•

en:decreased c3 activity

•

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

•

en:defect in mitochondrial and peroxisomal fission

•

en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1

•

en:cells show increased sensitivity to ionizing radiation

•

en:cd4/cd8 ratio decreased

•

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

•

en:ballooned neurons

•

en:at least 2 complementation groups

•

en:associated with serum anti-phospholipid antibodies in about 50% of patients

•

en:aprt deficiency measured in erythrocyte lysate

•

en:antineutrophil cytoplasmic antibody

•

en:anti-ds dna antibody

•

en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria

•

en:increased plasma levels of very long-chain fatty acids (vlcfa)

•

en:acute-phase reactants during fever

•

en:defective bile acid metabolism

•

en:aminoaciduria (in some patients)

•

en:deletion of chromosome 18p11.2

•

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

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased lysine in serum and csf

•

en:increased neopterin in urine and csf

•

en:increased lactate in spinal fluid

•

en:increased igm level

•

en:increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased csf threonine

•

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

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypogammaglobulinemia, profound

•

en:hypertriglyceridemia (in some patients)

•

en:immotile cilia

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:elevated leukotriene e(4)

•

en:dermatan sulfate excretion in urine

•

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

•

en:homocitrullinuria

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated alkaline phosphatase

•

en:elevated urinary epinephrine

•

en:hemizygous deletion at 7q11.23

•

en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid

•

en:hemoglobin f increased

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:female carriers show markedly skewed x inactivation

•

en:normal red cell counts

•

en:normal prolyl 4-hydroxylase activity

•

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

•

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

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:mildly increased serum creatine kinase (in some patients)

•

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

•

en:low serum levels of branched-chain amino acids

•

en:normal or mildly decreased arylsulfatase a activity

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

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

•

en:low or normal serum calcium

•

en:low maximal oxygen uptake on exercise testing

•

en:loss of ciliary beat coordination

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:lack of excessive parenchymal iron storage

•

en:keratan sulfaturia in some patients

•

en:intracellular accumulation of unesterified cholesterol

•

en:increase urinary excretion of lysine, arginine, and ornithine

•

en:increased urinary sulfite

•

en:increased urinary sulfatides

•

en:increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum vitamin b12

•

en:normal serum bile acids

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:normal serum phosphorus

•

en:serum bicarbonate increased

•

en:abnormal myelination in sural nerve biopsies

•

en:increased serum creatine kinase, mild

•

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

•

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

•

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

•

en:variable defects of inner dynein arms

•

en:urinary prostaglandin e

•

en:tyrosinemia (transient, resolves in infancy)

•

en:tay-sachs disease

•

en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum iron raised

•

en:serum creatine kinase may be normal or elevated

•

en:sce normal in heterozygotes

•

en:no elevation of free fatty acids

•

en:routine liver function tests normal

•

en:pyruvic acidemia

•

en:presence of vacuoles on muscle biopsy

•

en:predominance of the d-stereoisomer

•

en:pcs involves most of all chromosomes of a metaphase

•

en:patient fibroblasts and muscle show decreased activities of mitochondrial complexes i, iii, and iv

•

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

•

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

•

en:partial deficiency of factor xiii(c)

•

en:orotic aciduria

•

en:organic aciduria, mild (in some patients)

•

en:occasionally mild elevation of csf protein

•

en:no evidence of intrauterine infection in mother or newborn

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:defective (ca2+) mobilization in t cells

•

en:increased serum beta-hexosaminidase (10-20x)

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:decreased serum and salivary lactoferrin has been described in 1 family

•

en:decreased platelet derived growth factor

•

en:decreased or absent peroxisome acyl-coa oxidase activity and protein

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased csf serine

•

en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)

•

en:decreased b cells

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

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

•

en:decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes

•

en:decreased-absent intestinal mucosa lactase activity

•

en:creatine kinase levels may normalize with disease progression

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:decreased serum ferritin

•

en:chromosomal instability

•

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

•

en:antiphospholipid antibody

•

en:anti-ssb positive

•

en:alpha ketoadipic aciduria

•

en:acylglycinuria

•

en:absent or abnormal thyroglobulin

•

en:absence of emerin by immunohistochemistry on muscle biopsy

•

en:abnormal igfr1 function

•

en:abnormal dystrophin on muscle biopsy

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:2-oxoadipic aciduria

•

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

•

en:decreased serum cholesterol (in some)

•

en:decreased serum free thyroxine

•

en:increased serum and urinary lactate

•

en:hemizygous deletion at 4p16.3

•

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

•

en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells

•

en:impaired n-glycosylation

•

en:immotile or weakly motile cilia

•

en:immediate (type i) skin test reactivity

•

en:hypokalemia during attacks

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypoglycemia, fasting

•

en:hypocalcemia, transient

•

en:holocarboxylase synthetase deficiency

•

en:high urinary copper

•

en:high serum guanosine levels

•

en:gaucher disease, type 1

•

en:defective t-cell proliferative responses (in some patients)

•

en:folate-dependent fragile site at xq28

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:elevated urinary mevalonic acid

•

en:elevated serum phosphorus

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated pth (parathyroid hormone)

•

en:elevated plasma ammonia

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated calcitonin

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:diagnosis by exposing muscle biopsy to caffeine and/or halothane

•

en:defect in n- and o-glycosylation

•

en:absent anti-insulin receptor antibodies

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:alpha-fetoprotein normal

•

en:increased urinary 2-methylbutyrylglycine

•

en:median mean platelet volume (mpv) 18fl

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:low to very low hdl cholesterol

•

en:low serum concentration of intercellular adhesion molecule 1 (icam1)

•

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

•

en:low csf creatine

•

en:low acth level

•

en:iron overload (in some patients)

•

en:increased urinary neopterin

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

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

•

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

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:increased serum serotonin in 25%

•

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

•

en:increased serum gm-csf

•

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

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma lactate

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased plasma branched-chain fatty acids

•

en:increased il1b increased soluble il2r

•

en:increased excretion of urobilinogen

•

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

•

en:methylmalonic aciduria

•

en:normal eosinophil peroxidase activity

•

en:iiga and igg antigliadin antibodies (aga)

•

en:proper antibody response to protein vaccinations

•

en:variable hyperlipidemia

•

en:urine cortisol, increased

•

en:uric acid normal

•

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

•

en:thyroid dyshormonogenesis 5

•

en:slightly increased serum alkaline phosphatase may occur

•

en:severe amyloid angiopathy

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum cortisol decreased

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:raised c-reactive protein

•

en:prothrombin time increased

•

en:prolonged prothrombin time (pt)

•

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

•

en:prolonged partial thromboplastin time (ptt)

•

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

•

en:premature separation of centromeric heterochromatin

•

•

en:phosphaturia

•

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

•

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

•

en:partial deletion of long arm of chromosome 11 (11q23-qter)

•

en:parathyroid hormone (pth) absent to low

•

en:organic aciduria

•

en:normal phytanic acid

•

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

•

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

•

en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides

•

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

•

en:hypomagnesemia

•

en:decreased free t(3)/free t(4)

•

en:decreased urinary sulfate

•

en:decreased t cells

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased palmitate oxidation

•

en:decreased or increased serum testosterone

•

en:decreased or absent ciliary motility

•

en:decreased mitochondrial complex v assembly

•

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

•

en:decreased leptin

•

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

•

en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity

•

en:deficiency of glycoprotein (gp)iib-iiia complex

•

en:decreased csf homovanillic acid (hva)

•

en:decreased csf folate

•

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

•

en:decreased ciliary motility

•

en:decreased atp synthase in muscle, heart, liver, and brain

•

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 activity of complement factor d

•

en:decreased acid sphingomyelinase activity

•

en:coombs positive hemolytic anemia

•

en:b lymphocytopenia

•

•

en:bile contains cholesterol crystals

•

en:a small minority of patients have translocations and inversions involving 16p13.3

•

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

•

en:bilirubin conjugated increased

•

en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity

•

en:hb h erythrocyte inclusions

•

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

•

en:hypermagnesiuria

•

en:hyperglycolic aciduria

•

en:hyperglycemias, postprandial

•

en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes

•

en:hyperalphalipoproteinemia

•

en:homocystinuria

•

en:high sweat sodium and chloride

•

en:heteroplasmic partial duplication of mtdna

•

en:hereditary angioedema

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:hematuria, gross and microscopic

•

en:hyperkalemia

•

en:glycogen storage disease type vii

•

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

•

en:elevated creatine kinase (in some patients)

•

en:electrolyturia (1 patient)

•

en:elevated plasma phytanic acid

•

en:elevated sed rate

•

en:elevated serum acid phosphatase

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fibronectin decreased

•

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

•

en:glucose-6-phosphate deficiency

•

en:glycoamino aciduria

•

en:glycogen storage disease type v

•

en:increased urinary propionyl glycine

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary excretion of camp

•

en:increased urinary glycerol

•

en:low serum levels of ketone bodies

•

en:lack of ciliary motility

•

en:leukocytosis

•

en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low or absent luteinizing hormone (lh)

•

en:increased urinary 2-butanone

•

en:increased intracellular fmrp mrna

•

en:increased total bilirubin may occur

•

en:increased tissue long-chain fatty acids

•

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

•

en:increased serum unconjugated bilirubin

•

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

•

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

•

en:increased csf pyruvic acid

•

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

•

en:hyponatremia

•

en:hypocalciuria

•

en:hypoalbuminemia

•

en:hypertryptophanemia

•

en:markedly decreased or absent serum 1,25-dihydroxyvitamin d3

•

en:lysine-ketoglutarate reductase deficiency

•

en:occasional hypomagnesemia

•

en:metachromasia of white blood cells and fibroblasts

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:tangier disease

•

en:xanthine nephrolithiasis

•

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

•

en:thyroid hormone organification defect

•

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

•

en:subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues

•

en:severely decreased palmitate oxidation

•

en:serum carnitine deficiency

•

en:secondary decreases in complex i and iv activity

•

en:reduced serum uric acid

•

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:mildly elevated acth

•

en:no hyperuricemia

•

en:normal urinary pterins

•

en:normal urinary cyclic amp response to pth administration

•

en:normal to mildly increased serum parathyroid hormone (pth)

•

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

•

en:normal plasma total homocysteine

•

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

•

en:normal or increased serum phosphate

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:n-glycosylation defect

•

en:myoglobinuria, particularly after physical exertion (25% of patients)

•

en:myelin basic protein measurement, spinal fluid

•

en:hyperornithinemia

◀

en:accumulation

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846267 • caches: c1=8 c2=1003 c3=1

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