Le Diko - en:increased urinary dicarboxylic acid, transient

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Le Diko - en:increased urinary dicarboxylic acid, transient

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

(id=6880951)

en:increased urinary dicarboxylic acid, transient

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:respiratory epithelial show lack of ciliary movement or abnormal movement

•

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

•

•

en:monomeric igm

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased alpha-fetoprotein (1 patient)

•

en:elevated serum bile acids

•

en:elevated cerebrospinal fluid (csf) protein

•

en:decreased glomerular filtration rate (gfr)

•

en:decreased adenosylcobalamin

•

en:urocanase deficiency

•

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

•

en:predominance of the d-stereoisomer

•

en:nonketotic hypoglycemia

•

en:low or normal serum igm

•

en:increased serum s-adenosylhomocysteine

•

en:increased lactate in spinal fluid

•

en:hyperglycinemia (1 patient)

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:elevated urinary 3-methylglutarate

•

en:decreased hdl cholesterol

•

en:normal sweat electrolytes

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

en:normal activity of von willebrand factor-cleaving protease

•

en:low to normal serum calcium

•

en:elevated calcitonin

•

en:elevated afp (endodermal sinus tumor)

•

en:decreased serum carnitine in acute stage

•

en:decreased neopterin and biopterin in urine

•

en:decreased csf serine

•

en:decreased asparagine levels (in some patients)

•

•

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

•

en:thrombocytopenia

•

en:normal leukocyte and platelet counts

•

en:normal dermal hydroxylysine content

•

en:hyperuricosuria

•

en:hyperammonemia, episodic

•

en:hepatic gamma-cystathionase deficiency

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased number of igf1 receptors (igf1r, 147370) on cell surface

•

en:abnormal n-glycosylation of transferrin

•

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

•

en:serum copper decreased

•

en:lactic acidemia

•

en:increased plasma and urinary pipecolic acid

•

en:increased csf and plasma ghb

•

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

•

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

•

en:ferritin decreased

•

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

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

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

•

en:aminoaciduria (1 patient)

•

en:aldosterone level increased above normal

•

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

•

en:thyroid dyshormonogenesis 4

•

en:structural abnormalities seen on chromosome analysis

•

en:serum triglycerides increased

•

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

•

en:mildly elevated blood ammonia

•

en:low urinary orotic acid

•

en:lower total cholesterol

•

en:increased serum ammonia (group b)

•

en:hypoproteinemia (in 1 patient)

•

en:high nonceruloplasmin-bound serum copper

•

en:frequent deletions of chromosome 9 in melanoma

•

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

•

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

•

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

•

en:deficiency or absence of p91-phox protein

•

en:decreased plasma zinc levels

•

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

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b))

•

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

•

en:increased di- and asialo-transferrin

•

en:hyperprostaglandinuria

•

en:elevated 17-hydroxyprogesterone

•

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

•

en:cholesterol normal

•

en:bilirubin may or may not be increased

•

en:axonemes show normal structure

•

en:alkaline phosphatase normal

•

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

•

en:mildly prolonged bleeding time 10-12 minutes

•

en:lactate pyruvate ratio normal

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary and serum glycine

•

en:increased urinary adenosine

•

en:increased serum creatine kinase (patient a)

•

en:elevated plasma phytanic acid

•

en:elevated 3-methylcitric acid

•

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

•

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

•

en:decreased activity of the pdh phosphatase

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:aldosterone concentration below normal

•

en:very low igg

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:normal free urinary cortisol

•

en:myelin basic protein measurement, spinal fluid

•

en:methemoglobin concentration 12 to 19%

•

en:increased soluble il2 receptor

•

en:hypercholesterolemia

•

en:high ft3/ft4 ratio

•

en:fluorescence of red blood cells by uv microscopy

•

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

•

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

•

en:decreased factor xi

•

en:aminoaciduria (less common)

•

en:2-aminoadipic aciduria

•

en:very long chain fatty acid accumulation

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:low to normal plasma methionine

•

en:intermittent dicarbonic aciduria

•

en:infantile hypophosphatasia

•

en:increased serum pyruvate in acute stage

•

en:increased serum acylcarnitine during febrile crisis

•

en:igg, decreased

•

en:hydrocortisone decreased

•

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

•

en:elevated dihydrobiopterin in csf

•

en:dyslipidemia

•

en:disorganized growth plate cartilage

•

en:direct coombs test negative

•

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

•

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

•

en:cholesterol low

•

en:absent alkyl-dhap synthase activity

•

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

•

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

•

en:normal to slightly elevated plasma cholesterol

•

en:n-glycosylation defect

•

en:microduplication of chromosome 5p13

•

en:low free carnitine

•

en:increased renal tubular phosphate reabsorption

•

en:hyperchloremia (mean 111 mm)

•

en:decreased serum ferritin

•

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

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:aspartylglycosaminuria

•

en:vitamin d deficiency

•

en:two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)

•

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

•

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

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:marked elevation of erythrocyte sedimentation rate

•

en:increased urinary sulfite

•

en:increased serum bilirubin (in some patients)

•

en:decreased serum haptoglobin (in some patients)

•

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

•

en:chronic hypercapnia

•

en:blood glucose normal

•

en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts

•

en:abnormal cholesterol homeostasis

•

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

•

en:metachromasia of white blood cells and fibroblasts

•

en:increased csf interferon alpha

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:elevated serum transaminases during infections

•

en:decreased plasma glycine

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:acute hyperammonemia

•

en:abnormal liver enzymes (1 patient)

•

en:vitamin b12 deficiency (in some patients)

•

en:thymic hormone decreased

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:increased serum, urinary, and csf lysine

•

en:fibronectin decreased

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:vitamin k deficiency

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:parathyroid hormone (pth) absent to low

•

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

•

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

•

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

•

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

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:undetectable urinary hypoxanthine

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:reduced ige levels

•

en:normal cd8+/cd4+ ratio

•

en:methylsuccinic aciduria

•

en:low absolute lymphocyte count

•

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

•

en:increased blood alanine

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:decreased or absent gch1 activity

•

en:aminoaciduria (rare)

•

en:aminoaciduria

•

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

•

en:variably increased serum creatine kinase

•

en:undetectable plasma dbh activity

•

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

•

en:spongy degeneration of brain on histology

•

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

•

en:some fragmented or disrupted golgi

•

en:slightly increased serum alkaline phosphatase may occur

•

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

•

en:serum thyroxine may be decreased or normal

•

en:serum iron normal

•

en:serum gastrin increased

•

en:serum calcium elevated

•

en:serum c-reactive protein may be increased

•

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

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:secondary decreases in complex i and iv activity

•

en:schirmer test shows alacrima

•

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

•

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

en:proper antibody response to protein vaccinations

•

•

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

•

en:postprandial hyperglycemia (early in disease course)

•

en:plasma aldosterone increased

•

en:phosphorylase kinase deficiency in liver and muscle

•

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

•

en:no lactic acidosis

•

en:no hyperuricemia

•

en:no evidence of perinatal infection

•

en:no dicarboxylic aciduria

•

en:normal urinary pterins

•

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

•

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

•

en:normal lysyl hydroxylase activity

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:myoglobinuria with extreme exertion

•

en:multiple tissue biopsies show lysosomal storage disease

•

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

•

en:moderately decreased to normal phk activity in skeletal muscle

•

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

•

en:microsomal hmg-coa reductase decreased

•

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

•

en:markedly increased serum creatine kinase

•

en:lysyl hydroxylase deficiency

•

en:low serum calcium

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:karyomegaly may be found in other visceral organs

•

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

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary urate

•

en:increased urinary hydroxyisovaleric acid

•

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

•

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

•

en:increased urinary cortisol/cortisone ratio

•

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

•

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

•

en:increased serum uric acid

•

en:increased serum glutamine

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum creatine kinase (less common)

•

en:increased serum acyl carnitines

•

en:increased plasma pristanic acid

•

en:increased plasma creatine

•

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

•

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

•

en:increased interleukin 10

•

en:increased il-6

•

en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)

•

en:increased fas ligand

•

en:increased disialo- and asialotransferrin

•

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

•

en:increased ck-mb

•

en:increased chromosomal breakage

•

en:increased c10:2-carnitine

•

en:increased bone-specific alkaline phosphatase

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased 11-deoxycorticosterone

•

en:immunoglobulin a decreased

•

en:iga antiendomysial antibodies (ema)

•

en:i-cell disease

•

en:hypoproteinemia

•

en:hypogammaglobulinemia

•

en:hypocalcemia (male)

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hypercholesterolemia (in 75%)

•

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

•

en:hematuria, macroscopic and microscopic

•

•

en:glomerular filtration rate decreased

•

en:fragmentation of the mitochondrial network

•

en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)

•

en:farber lipogranulomatosis

•

en:elevated pregnenolone

•

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

•

en:elevated mchc

•

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

•

en:elevated hcg (choriocarcinoma)

•

en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)

•

en:echocardiogram abnormal

•

en:direct hyperbilirubinemia

•

en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes

•

en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

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

•

en:defect in retrograde intraflagellar transport in cilia

•

en:decreased sulfite oxidase activity

•

en:decreased serum cholesterol (in some)

•

en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999)

•

en:decreased renal calcium excretion

•

en:decreased peroxisomal fatty acid beta-oxidation

•

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

•

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

•

en:decreased natural killer cells

•

en:decreased methylmalonyl-coa mutase activity

•

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

•

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

•

en:decreased fibrillin-1 immunostaining in the dermis

•

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

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

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

•

en:decreased acid beta galactosidase protein and activity

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

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

•

en:cerebrospinal fluid lymphocytosis

•

en:cd4+/cd8+ ratio often reversed

•

en:borderline elevated low-density lipoprotein

•

en:anti-factor viii positive

•

en:absence of cd59 expression on red cells

•

en:abnormal karyotype in 3 patients involving distal 6p

•

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

•

en:abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins

•

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

•

en:variable hypoglycemia

•

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

•

en:urinary prostaglandin e

•

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

•

•

en:some cilia show central complex and radial spoke defects

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:serum transaminase increased

•

en:serum phosphate normal

•

en:serum growth hormone increased

•

en:serum calcitonin, increased

•

en:routine liver function tests normal

•

en:reduced erythrocyte adenosine deaminase activity

•

en:proteinuria (type ii, congenital)

•

en:prominent leukocytosis (30,000/ml)

•

en:pentagastrin stimulation test

•

en:no elevation of free fatty acids

•

en:normal transferrin saturation

•

en:normal serum complement levels

•

en:normal serum 25-hydroxyvitamin d3

•

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

•

en:normal or mildly increased serum creatine kinase

•

en:normal lysyl oxidase activity

•

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

•

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

•

en:normal constitutional karyotype

•

en:normal complex ii activity

•

en:normal blood lactate

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:methylenetetrahydrofolate reductase deficiency

•

en:methionine adenosyltransferase deficiency

•

en:methemoglobinemia

•

en:low urinary cyclic amp response to pth administration

•

en:low serum ceruloplasmin

•

en:low or absent growth hormone (gh)

•

en:low csf creatinine

•

en:low copper and ceruloplasmin

•

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

•

en:increased urinary excretion of 4-hydroxybutyric acid (ghb)

•

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

•

en:increased urinary creatine

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum thymidine

•

en:increased serum lactate in acute stage

•

en:increased serum ige

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum beta-hexosaminidase

•

en:increased serum alanine

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased prv-1 (162860) mrna

•

en:increased plasma proinsulin

•

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

•

en:increased csf threonine

•

en:increased csf protein

•

en:increased csf interferon

•

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

•

en:increased 18-ohb to aldosterone ratio

•

en:immunoreactive pc protein

•

en:iiga and igg antigliadin antibodies (aga)

•

•

en:hypoglycemia

•

en:hypocalcemia (64% of adults)

•

en:hypertryptophanemia

•

en:hyperlysinemia

•

en:hypercholesterolemia (disorder)

•

en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine

•

en:high ebv viral load

•

en:hepatic lipase deficiency (disorder)

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:fluorescence in situ hybridization specific probe for mds critical region

•

en:female carriers show markedly skewed x inactivation

•

en:excessive iodide trapping

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated serum long-chain fatty acids

•

en:elevated plasma levels of lp(a)

•

en:elevated l-2-hydroxyglutaric acid (urine)

•

en:elevated creatine kinase (in some patients)

•

en:duplication or deletion at 11p15.5

•

en:disseminated intravascular coagulation

•

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

•

en:deletion of chromosome 18p11.2

•

•

en:defect in oxidative phosphorylation

•

en:defective mitochondrial respiratory enzyme activity

•

en:decreased urinary sulfate

•

en:decreased thyroxine level

•

en:decreased serum rt3

•

en:decreased serum cobalamin

•

en:decreased s-ado:saicar ratio

•

en:decreased red cell pyruvate kinase activity

•

en:decreased plasma gonadotrophin

•

en:decreased or normal plasma insulin

•

en:decreased or absent serum ceruloplasmin

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:decreased dna excision repair

•

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

•

en:decreased ciliary motility

•

en:decreased beta-glucosidase protein and activity

•

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

•

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

•

en:cystathioninemia

•

en:chondroitin 4-, 6-sulfate excretion in urine

•

en:carnitine deficiency

•

en:blood urea nitrogen increased

•

en:biotinidase deficiency

•

en:antiribonuclear protein positive

•

en:amorphous hyaline substance (skin biopsy and visceral organs)

•

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:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal electrophoretic mobility of type ii collagen

•

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

•

en:3-methylglutaric aciduria (3-mga)

•

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

•

en:very low leptin level

•

en:variable respiratory chain enzyme deficiency

•

en:variable hyperlipidemia

•

en:vacuolated lymphocytes

•

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

•

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

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:tryptophanuria

•

en:thrombocytosis (in some patients)

•

en:ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish

•

en:shortened telomeres (1 patient)

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

en:serum pristanic acid increased

•

en:serum cholesterol raised

•

en:serum bilirubin increased

•

en:serum and csf lactate may be increased

•

en:reduced platelet aggregation response to collagen and thrombin

•

en:reduced beating amplitudes in cilia

•

•

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

•

en:protein total decreased

•

en:prolonged partial thromboplastin time (ptt)

•

en:positive urinary bratton-marshall test

•

en:poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt)

•

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

•

en:persistent ebv viremia

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:normal serum cobalamin (vitamin b12)

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

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

•

en:normal male karyotype (46,xy)

•

en:normal isoelectric focusing of apolipoprotein ciii

•

en:normal igg levels

•

en:normal concentration of parathyroid hormone

•

en:normal cerebrospinal fluid

•

en:normal-elevated plasma testosterone (male range)

•

en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients)

•

en:molybdenum cofactor deficiency

•

en:mitochondrial malic enzyme reduced

•

en:mild elevation of cholesterol

•

en:mildly increased serum lactate

•

en:mildly elevated creatine phosphokinase

•

en:microdeletion 22q11.2

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:methylglutaconic aciduria, mild

•

en:methioninuria

•

en:medium chain dicarboxylic aciduria

•

en:marked hypobetalipoproteinemia

•

en:low to very low hdl cholesterol

•

en:low to low-normal magnesium

•

en:low serum levels of ketone bodies

•

en:low or undetectable c-peptide

•

en:low csf creatine

•

en:low-to-normal platelet count

•

en:little to absent aspartylglucosaminuria activity

•

en:lactic acidosis

•

en:iron overload (in some patients)

•

en:interstitial or terminal deletion of 18q

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary carnitine

•

en:increased urinary 3-oh-butyric acid

•

en:increased urinary, plasma, and csf dihydrouracil

•

en:increased uric acid level

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum triiodothyronine (t3)

•

en:increased serum s-adenosylmethionine

•

en:increased serum osteocalcin

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased serum lactate

•

en:increased plasma homogentisic acid (hga)

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased igg level

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased creatine kinase, mild to moderate

•

en:immediate (type i) skin test reactivity

•

en:hyponatremia in infancy

•

en:hypermagnesemia

•

en:hyperkalemia during attacks

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:gaucher disease, type 1

•

en:folate-dependent fragile site at xq28

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:enzyme replacement therapy has not been effective

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:elevated serum levels of adenosine

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated plasma propionylcarnitine

•

en:elevated plasma insulin

•

en:elevated plasma desmosterol

•

en:elevated ferritin l subunit

•

en:elevated circulating parathyroid hormone (pth) level

•

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

•

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

•

en:deficiency or absence of p91-phox (300481) protein

•

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

•

en:decreased whole blood serotonin

•

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

•

en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased serum iron (in some patients)

•

en:decreased serum haptoglobin

•

en:decreased serum androgens

•

en:decreased plasma apolipoprotein c-ii

•

en:decreased plasma and urinary ornithine

•

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

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased methionine synthase activity

•

en:decreased levels of the e2 subunit protein

•

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

•

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

•

en:decreased c3 antigen

•

en:decreased activity of nadph oxidase

•

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

•

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

•

en:continuous urinary iodine loss

•

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

•

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

•

en:alpha ketoadipic aciduria

•

en:absent igg2 subclass

•

en:absence of cpt ii protein

•

en:abnormal isoelectric focusing of serum transferrin

•

en:5-oxoprolinase deficiency

•

en:laboratory abnormalities

•

en:tyrosinemia (transient, resolves in infancy)

•

en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:serum thiamine is normal

•

en:serum folate normal

•

en:serum corticosterone increased

•

en:serum albumin low result

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:saccharopine dehydrogenase deficiency

•

en:rhabdomyolysis in response to alcohol

•

en:reduced platelet glycoprotein ib complex

•

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

•

en:pseudohypertriglyceridemia in adult form

•

en:propionic acidemia

•

en:premature chromosome condensation

•

en:polyploid sperm heads

•

en:platelet function test normal

•

en:plasma catecholamines decreased

•

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

•

en:parathyroid hormone level increased

•

en:p5c levels increased in urine

•

en:no evidence of intrauterine infection in mother or newborn

•

en:normocalcemia

•

en:normal to increased plasma threonine

•

en:normal to elevated total plasma carnitine

•

en:normal sweat chloride (3 of 3 patients)

•

en:normal serum bile acids

•

en:normal plasma renin

•

en:normal or decreased serum potassium

•

en:normal erythrocyte gs activity

•

en:normal ciliary structure and function

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)

•

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

•

en:mitochondrial deletions

•

en:mild eosinophilia may occur

•

en:microscopic hematuria

•

en:median mean platelet volume (mpv) 20fl

•

en:median mean platelet volume (mpv) 12.5fl

•

en:low serum alkaline phosphatase in heterozygotes

•

en:low rai (radioactive iodine) uptake

•

en:low plasma citrulline

•

en:low leukocyte alkaline phosphatase activity

•

en:low fasting glucose (in some patients)

•

en:low-to-normal csf lactate

•

en:isovalerylglycinuria

•

en:isovalericaciduria

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased very-long chain fatty acids

•

en:increased urinary ketones

•

en:increased urinary hypoxanthine

•

en:increased urinary glutaric acid

•

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

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased tissue levels of triglycerides

•

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

•

en:increased plasma pipecolic acid

•

en:increased plasma lactate

•

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

•

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

•

en:increased ige level

•

en:increased histidine in blood, urine, and csf

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased free cyanocobalamin in fibroblasts

•

en:increased csf lactate

•

en:increased biliverdin in bodily fluids

•

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

•

en:impaired creatine uptake in fibroblasts

•

en:hypomagnesemia

•

en:hypofibrinogenemia

•

en:hypocalcemia

•

en:hyperornithinemia

•

en:homocystinuria

•

en:homocysteinemia (in some patients)

•

en:high sweat sodium and chloride

•

en:hemizygous deletion at 7q11.23

•

en:hair bulb tyrosinase present

•

en:glycogen storage disease type v

•

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

•

en:galactosylation defects

•

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

•

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

•

en:fibrinogen decreased

•

en:ethylmalonic aciduria

•

en:elevated serum phosphate in heterozygotes

•

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

•

en:elevated sed rate

•

en:elevated plasma stigmasterol

•

en:elevated plasma methionine (methioninemia)

•

en:elevated plasma acth

•

en:elevated fibroblast free sialic acid

•

en:elevated csf glycine

•

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

•

en:elevated 2-ketoglutarate (urine)

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:deficient fibroblast aicar-tf activity

•

en:deficiency of laminin in basement membranes

•

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

•

en:decrease plasma serine (fasting)

•

en:decreased von willebrand factor

•

en:decreased telomere length in lymphocytes

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum ceruloplasmin

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased plasma lpl levels (in some patients)

•

en:decreased or absent steroid sulfatase activity

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

en:decreased mitochondrial complex v assembly

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased complement factor d

•

en:decreased circulating cortisol level

•

en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts

•

en:decreased aminoacylase-1 activity

•

en:decreased activity of tyrosine hydroxylase

•

en:decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values

•

en:decreased activity of complement factor d

•

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

•

en:coarse metachromatic granules in white blood cells

•

en:chylomicronemia, refractory fasting

•

en:b lymphocytopenia

•

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

•

en:at least 2 complementation groups

•

en:antithrombin iii deficiency

•

en:absent or abnormal thyroglobulin

•

en:absence of outer dynein arms

•

en:abnormal fecal fat

•

en:abnormal dystrophin on muscle biopsy

•

en:aberrant gamma-interferon-mediated inflammation

•

en:very low density lipoprotein increased

•

en:upregulation of alpha-interferon-stimulated genes

•

en:type 1 collagen overmodification

•

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

•

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

•

en:serum cortisol decreased

•

en:round, yellow-brown dha urine crystals

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:pipecolic acid accumulation.

•

•

en:partial deficiency of factor xiii (less common)

•

en:partial deficiency of factor xii(c)

•

en:parathyroid hormone normal

•

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

•

en:no mucopolysacchariduria

•

en:no evidence of common prenatal infections

•

en:no c8 antigen detected

•

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

•

en:normal serum phytanic and pristanic acid

•

en:normal serum and mucosal iga

•

en:normal plasma total homocysteine

•

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

•

en:neutrophilia, both basal and during infections

•

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

•

en:multiple autoantibodies

•

en:mucopolysaccharidosis type iiid

•

en:methylmalonic aciduria

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:lysine-ketoglutarate reductase deficiency

•

en:low serum igg and iga

•

en:low plasma methionine

•

en:low or normal serum erythropoietin

•

en:low or low-normal serum t4

•

en:long-chain ketonuria

•

•

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

•

en:iron binding capacity total increased

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary taurine

•

en:increased urinary neopterin

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary 2-hydroxybutyrate

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased serum pyruvate, mild

•

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

•

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

•

en:increased serum acylcarnitines

•

en:increased nasal-potential difference (some)

•

en:increased il18

•

en:increased csf histidine

•

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

•

en:increased creatinine

•

en:increased bile acid intermediates (dhca and thca)

•

en:increased 18-oxocortisol

•

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

•

en:impairment of urinary concentration

•

en:impaired response to gm-csf

•

en:hypophosphatemia (less common)

•

en:hypoalbuminemia (in 83%)

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hyperglycinemia

•

en:high plasma triglyceride levels

•

en:hereditary xanthinuria

•

en:hepatic ornithine transcarbamylase deficiency

•

en:hepatic argininosuccinase deficiency

•

en:glycogen storage disease type vi

•

en:factor viii deficiency

•

en:exercise-induced myoglobinuria in adults

•

•

en:elevated urinary phosphoethanolamine

•

en:elevated urinary ornithine, lysine, arginine

•

en:elevated urinary 3-methylglutaconate

•

en:elevated serum transferrin saturation

•

en:elevated serum phosphorus

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma ammonia

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

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

•

en:elevated 3-hydroxypropionic acid

•

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

•

en:dicarboxylic aciduria

•

en:defective dna repair

•

en:decreased thrombospondin

•

en:decreased serum bun

•

en:decreased or absent serum citrulline

•

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

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:decreased levels of plasma vwf antigen

•

en:decreased levels of cpt2 protein

•

en:decreased dermal hydroxylysine content

•

en:decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle

•

en:decreased cortisol-binding globulin

•

en:decreased b cells

•

en:decreased beta-glucocerebrosidase protein and activity

•

en:decreased axonal flare response after intradermal histamine injection

•

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

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:complex organic aciduria

•

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

•

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

•

•

en:blood pyruvic acid increased

•

en:atrial abnormalities on electrocardiogram

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

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

•

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

•

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

•

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

•

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

•

en:abnormal transaminases (1 patient)

•

en:abnormal nasal potential difference

•

en:abnormal liver function tests (in some patients)

•

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

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:variable defects of inner dynein arms

•

en:urine osmolarity decreased

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

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

•

en:transaminitis

•

en:thyroid peroxidase defect

•

en:sialylation defects

•

en:severely impaired ciliary motility

•

en:serum chloride level decreased (finding)

•

en:serum acid phosphatase normal

•

en:reduced ferrochelatase activity

•

en:prolonged bleeding time

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:pipecolic acidemia

•

en:osteocalcin increased

•

en:orotic aciduria

•

en:occasionally mild elevation of csf protein

•

en:normal to slightly high alkaline phosphatase

•

en:normal to mildly increased serum creatine kinase

•

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

•

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

•

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

•

en:microtubule disorganization in some cilia

•

en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs

•

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

•

en:low serum levels of branched-chain amino acids

•

en:low or absent prolactin (pl)

•

en:low maximal oxygen uptake on exercise testing

•

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

•

en:lactic acidemia (2p21del)

•

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary lactate

•

en:increased urinary excretion of coproporphyrin i

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased total bilirubin may occur

•

en:increased sodium-potassium pump activity

•

en:increased serum lactate during metabolic crisis

•

en:increased serum erythropoietin (epo, 133170)

•

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

•

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

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma vldl, ldl

•

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

•

en:increased excretion of urobilinogen

•

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

•

en:increased d-glyceric acid in serum, urine, and csf

•

en:increased csf glycine

•

en:impaired platelet aggregation

•

en:immunoglobulin antibodies present

•

en:hyposialylation of o-linked serum glycans

•

en:hyperthreoninemia

•

en:hyperprolinemia type 1

•

en:hyperphosphatemia

•

en:hyperlipoproteinemia type i

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hyperinsulinemia

•

en:high sister chromatid exchange (sce) rate

•

en:high plasma asparagine

•

en:hb h erythrocyte inclusions

•

•

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

•

en:glycoamino aciduria

•

en:glutaric acidemia type 1

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:generalized aminoaciduria

•

en:fibroblasts are small and rounded with prominent nucleoli

•

en:epstein-barr viraemia

•

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

•

en:elevated serum transaminase levels

•

en:elevated prothrombin time

•

en:elevated plasma estrogen

•

en:elevated hepatic transaminases

•

en:elevated hcg or afp or both (embryonal carcinoma)

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated alkaline phosphatase

•

en:electrolyturia (1 patient)

•

en:defective bile acid metabolism

•

en:decreased uros activity (1 patient)

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum igm

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum b12 levels

•

en:decreased serum and muscle coenzyme q

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased levels of certain coagulation factors

•

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

•

en:decreased csf homovanillic acid (hva)

•

en:decreased csf folate

•

en:decreased copper, iron, zinc

•

en:decreased clot retraction

•

en:decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase

•

en:creatine decreased

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa light chain (147200, 2p12) locus

•

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

•

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

•

en:aprt deficiency measured in erythrocyte lysate

•

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

•

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

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal liver enzymes, episodic

•

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

•

•

en:transferrin saturation increased

•

en:thyroid hormone organification defect

•

en:thyroid dyshormonogenesis 3

•

en:telomere shortening

•

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

•

en:t-cell deficit

•

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

•

en:severe amyloid angiopathy

•

en:serum phosphate concentration below normal

•

en:serum homocysteine normal

•

en:serum creatine kinase may be normal

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:platelet glycoprotein iiia deficiency

•

en:pancreatic trypsinogen deficiency

•

en:occasional hypomagnesemia

•

en:normal urinary cyclic amp response to pth administration

•

en:normal to increased plasma glycine

•

en:normal renin level

•

en:normal pyridinoline excretion in urine

•

en:normal lysl hydroxylase activity

•

en:normal eosinophil peroxidase activity

•

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

•

en:normal collagen type i studies

•

en:normal apoa-ii levels in homozygotes

•

en:mild elevation of triglycerides

•

en:mean platelet volume (mpv) 12.6fl

•

en:markedly reduced igg levels

•

en:low urinary excretion of neutral 17-ketosteroids

•

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

•

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

•

en:low plasma free and total carnitine

•

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

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low acth level

•

en:lactate high

•

en:iodide organification defect

•

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

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary methylcitrate

•

en:increased urinary l-glycerate

•

en:increased urinary fumaric acid

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum prostaglandin e2

•

en:increased serum lysine (group b)

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum c-reactive protein, episodic

•

en:increased serum 1,25-dihydroxyvitamin d3

•

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

•

en:increased platelet aggregation with ristocetin

•

en:increased phytanic acid in body tissues and fluids

•

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

•

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

•

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

•

en:hypoketotic hypoglycemia

•

en:hypokalemia during attacks

•

en:hyperuricuria

•

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

•

en:hyperammonemia, asymptomatic (2-5 times normal)

•

en:high sweat electrolyte

•

en:high-normal plasma triglyceride concentration (in heterozygotes)

•

en:hemophilia b

•

en:hemoglobin decreased

•

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

•

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

•

en:gonadotrophin increased

•

en:glucosuria, mild, intermittent

•

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

•

en:fibroblasts attach poorly

•

en:fasting ketosis

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880951 • caches: c1=8 c2=1003 c3=1

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