Le Diko - en:increased sensitivity to adrenergic and cholinergic agents

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Le Diko - en:increased sensitivity to adrenergic and cholinergic agents

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:increased sensitivity to adrenergic and cholinergic agents

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:undetectable serum l-transferrin (homozygous patient)

•

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

•

en:low serum alpha-fetoprotein (recessive)

•

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

•

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

•

en:hyperammonemia, episodic

•

en:hypercholesterolemia (disorder)

•

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

•

en:intracellular accumulation of unesterified cholesterol

•

en:irregularly shaped sperm heads

•

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

•

en:lactate dehydrogenase increased

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:galactosemia

•

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

•

en:increased plasma free cholesterol

•

en:abnormal liver enzymes (1 patient)

•

en:gaucher disease, type 1

•

en:increased long-chain acylcarnitine

•

en:elevated serum transferrin saturation

•

en:elevated free carnitine

•

en:decreased iga, igg, igm

•

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

•

en:elevated erythrocyte adenosine deaminase activity

•

en:cholesterol low

•

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

•

en:hypoglycemia, intermittent

•

en:increased serum lactate (in some patients)

•

en:increased urinary lactate

•

en:deficiency of fructokinase

•

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

•

en:increased harderoporphyrin excretion (feces, harderoporphyria)

•

en:increased pyruvate in serum and csf

•

en:paraproteinemia

•

•

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

•

en:increased serum ferritin (in some patients)

•

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

•

en:normal renin level

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:mild-moderate prolonged bleeding time

•

en:normal liver histology

•

en:decreased activity of pyruvate decarboxylase (e1 component)

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:elevated alkaline phosphatase (in one patient)

•

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

•

en:impaired o-glycosylation

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased serum and urinary lactate

•

en:chromosome 11q23.3 deletion

•

en:low total serum protein

•

en:serum triglycerides increased

•

en:aldolase a deficiency

•

en:decreased erythrocyte plasmalogen

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:immotile or weakly motile cilia

•

en:low 25-oh-vitamin d level

•

en:mild hyperammonemia

•

en:organic aciduria

•

en:primary immunoglobulin-related amyloidosis (al)

•

en:urine uric acid decreased

•

en:transaminitis

•

en:prolidase deficiency

•

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

•

en:abnormal liver enzymes (rare)

•

en:abnormal cartilage collagen on em

•

en:thyroid hormones increased

•

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

•

en:increased serum triiodothyronine (t3)

•

en:increased plasma pipecolic acid

•

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

•

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

•

en:aminoaciduria (in some patients)

•

en:decreased csf hypocretin

•

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

•

en:fasting ketosis

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:low plasma methionine

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

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

•

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

•

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

•

en:serum lactate is usually normal

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary methylcitrate

•

en:increased urinary glycerol

•

en:increased serum citrulline (group b)

•

en:increased nasal-potential difference (some)

•

en:spongy degeneration of brain on histology

•

en:normal red cell counts

•

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

•

en:antiribonuclear protein positive

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

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

•

en:increased osmotic fragility

•

en:increased serum total cholesterol

•

en:increased urinary magnesium

•

en:ketonuria, acute

•

en:rhabdomyolysis in response to alcohol

•

en:antineutrophil antibody positivity

•

en:decreased levels of the e2 subunit protein

•

en:decreased serum androgens

•

en:defect in n- and o-glycosylation

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

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

•

en:hyperthreoninuria

•

en:leukocytosis

•

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

•

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

•

en:sce normal in heterozygotes

•

en:hepatic gamma-cystathionase deficiency

•

en:normocalcemia

•

•

en:hyperlipoproteinemia type i

•

en:hyperinsulinemia

•

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

•

en:elevated plasma acth

•

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

•

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

•

en:at least 2 complementation groups

•

en:absence of outer dynein arms

•

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

•

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

•

en:transferase deficiency galactosemia

•

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

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:thyroid dyshormonogenesis 5

•

en:secondary decreases in complex i and iv activity

•

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

•

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

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:increased serum lactate in acute stage

•

en:increased serum butyryl carnitine

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:low serum acth

•

en:low csf creatinine

•

en:vitamin d deficiency

•

en:variegated translocation mosaicism in cultured fibroblasts

•

en:low serum alkaline phosphatase in heterozygotes

•

en:alpha-fetoprotein normal

•

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

•

en:hypokalemia during periodic paralysis (most patients)

•

en:decreased serum c3 (atypical hus)

•

en:abnormal serum transferrin pattern (in some patients)

•

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

•

en:cd4+/cd8+ ratio often reversed

•

en:hyposialylation of o-linked serum glycans

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:hawkinsinuria

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:median mean platelet volume (mpv) 18fl

•

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

•

en:low or undetectable c-peptide

•

en:persistent ebv viremia

•

en:increased urinary o-linked sialopeptides

•

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

•

en:increased csf protein during acute illness

•

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

•

en:hepatic ornithine transcarbamylase deficiency

•

en:increased serum triglycerides (in some patients)

•

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

•

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

•

en:mildly decreased serum creatinine

•

en:methemoglobinemia

•

•

en:decreased levels of csf hypocretin (hcrt, 602358)

•

en:hyperchloremia (mean 109 mm)

•

en:decreased tetrasialotransferrin levels

•

en:cells show increased sensitivity to ionizing radiation

•

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

•

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

•

en:normal constitutional karyotype

•

en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy

•

en:parathyroid hormone level increased

•

en:low plasma arginine

•

en:type iii collagen defect

•

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

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:normal lactate (hcs)

•

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

•

en:increased urinary 2-butanone

•

en:increased serum lipoproteins

•

en:inappropriately increased urine osmolality

•

en:decreased or absent apolipoprotein a-i

•

en:decreased mucosal alkaline phosphatase

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary n-acetylated amino acids

•

en:increased urinary sulfatides

•

en:increased urine porphyrins at times

•

en:lack of excessive parenchymal iron storage

•

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

•

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

•

en:low copper and ceruloplasmin

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:lower total cholesterol

•

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

•

en:increased circulating renin level

•

en:increased serum alpha-mannosidase

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased serum pyruvate, mild

•

en:increased serum prostaglandin e2

•

en:increased serum creatine kinase, mild

•

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

•

en:increased serum and csf lactate

•

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

•

en:increased prevalence among the native american lumbee indians

•

en:increased plasma progastrin

•

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

•

en:increased csf protein

•

en:increased csf lactate

•

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

•

en:low plasma citrulline

•

en:low or absent thyrotropin (tsh)

•

en:pentagastrin stimulation test

•

en:low rai (radioactive iodine) uptake

•

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

•

en:reduced ige levels

•

en:reduced erythrocyte gs activity

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:pseudohypertriglyceridemia in adult form

•

en:presence of serum anti-lu3 antibodies

•

en:predominance of the d-stereoisomer

•

en:positive kveim-siltzbach skin test

•

en:plasma triglycerides increased

•

en:phytanic acid increased

•

en:phospholipid antibody positive

•

en:phosphate normal

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:partial deficiency of factor xi (less common)

•

en:occasionally mild elevation of csf protein

•

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

•

en:normal plasma and tissue carnitine

•

en:normal parathyroid hormone (female)

•

en:normal iga levels

•

en:normal complex ii activity

•

en:nonketotic hypoglycemia

•

en:myopathy with type i fiber atrophy on muscle biopsy

•

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

•

en:mild hypertriglyceridemia

•

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

•

en:methylenetetrahydrofolate reductase deficiency

•

en:may have increased serum parathyroid hormone (pth)

•

en:low serum magnesium

•

en:low serum ceruloplasmin

•

en:increased cellular sensitivity to uv light

•

en:elevated total iron-binding capacity

•

en:hypouricemia

•

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

•

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

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased plasma serine

•

en:decreased plasma arginine

•

en:decreased or absent serum ceruloplasmin

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased mitochondrial complex iii activity in muscle

•

en:decreased long-chain fatty acid oxidation

•

en:decreased eno3 activity

•

en:decreased csf homovanillic acid (hva)

•

en:decreased beta-glucosidase protein and activity

•

en:decreased antithrombin iii (rare)

•

en:decreased activity of the pdh phosphatase

•

en:decreased activity of galactocerebrosidase

•

en:decreased transferrin increased serum iron

•

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

•

en:decreased activities of multiple sulfatases

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:chronic hypercapnia

•

en:aprt deficiency measured in erythrocyte lysate

•

en:abnormal serum liver enzyme levels

•

en:abnormal liver function tests during pregnancy, resolves postpartum

•

en:abnormal liver enzymes during illness

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal isoelectric focusing of serum transferrin (type 2 pattern)

•

en:abnormal fecal fat

•

en:5-hiaa csf may be normal or decreased

•

en:serum creatine kinase may be increased

•

en:decreased telomere length in lymphocytes

•

en:decreased uros activity (1 patient)

•

en:hyperprolinemia type 1

•

•

en:hyperprolinemia (10-15 times normal)

•

en:hypermagnesiuria

•

en:hyperlactemia

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

en:homocitrullinuria

•

en:hla-dqw6 association (dqb1*0602)

•

en:high sweat sodium and chloride

•

en:high m-component

•

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

•

en:heparan n-sulfatase deficiency in fibroblasts and amniocytes

•

en:guanidinoacetate methyltransferase (gamt) deficiency

•

en:gm2-ganglioside accumulation

•

en:glycogen storage disease type vii

•

en:frequent deletions of chromosome 9 in melanoma

•

en:defects in mitochondrial oxidative phosphorylation

•

en:female carriers show markedly skewed x inactivation

•

en:exercise-induced myoglobinuria

•

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

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:elevated plasma campesterol

•

en:elevated plasma alloisoleucine

•

en:elevated long chain fatty acids

•

en:elevated csf/plasma glycine ratio

•

en:elevated creatine kinase (in some patients)

•

en:elevated androstenedione and testosterone

•

en:elevated 8(9)-cholestenol

•

en:direct coombs test negative

•

en:deletion of chromosome 18p11.2

•

en:serum calcitonin, increased

•

en:decreased serum acth

•

en:serum thiamine is normal

•

en:lack of lysosomal inclusions in visceral organs

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:nephrotic syndrome

•

en:methemoglobin concentration 12 to 19%

•

en:median mean platelet volume 13fl

•

en:marked hypobetalipoproteinemia

•

en:march myoglobinuria

•

en:low or normal serum erythropoietin

•

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

•

en:low or absent luteinizing hormone (lh)

•

en:low or absent iga levels

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:low apolipoprotein

•

en:large spermatozoa

•

en:ketonuria (1 patient)

•

en:normal concentration of parathyroid hormone

•

en:iodide organification defect

•

en:inner and outer dynein arm defects, variable

•

en:increased urinary taurine

•

en:increased urinary l-glycerate

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary cystine, arginine, lysine, and ornithine (hcs and 2p21del)

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 2-oxoglutaric acid

•

en:increased serum serotonin in 25%

•

en:increased serum lactate (mild)

•

en:increased serum creatine kinase (patient a)

•

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

•

en:increased plasma creatine

•

en:normal apoa-ii levels in homozygotes

•

en:normal igg levels

•

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

•

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

•

en:familial dysautonomia

•

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

•

•

en:transient neonatal hypocalcemia (2p21del)

•

en:severe hypernatremia in neonatal period

•

en:subsarcolemmal pleomorphic mitochondria on em

•

en:some cilia show abnormal beating patterns or immotility

•

en:serum prolactin increased

•

en:serum ferritin hyperglycosylation

•

en:serum cortisol decreased

•

en:serum aldosterone elevated

•

en:sepiapterin reductase deficiency (fibroblasts)

•

en:schirmer test shows alacrima

•

en:premature separation of centromeric heterochromatin

•

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

•

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:polymorphonuclear leukocytosis, episodic

•

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

•

en:plasma ammonia not elevated

•

en:phosphaturia

•

en:patient cells show increased chromosome breakage

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:normal serum lipoprotein levels

•

en:normal platelet aggregation with adp, collagen, epinephrine

•

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

•

en:normal or increased serum phosphate

•

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

•

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

•

en:increased fas ligand

•

en:absent anti-insulin receptor antibodies

•

en:decreased cortisol-binding globulin

•

en:decreased b cells

•

en:decreased asparagine levels (in some patients)

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:cellular arrest at g2 of the cell cycle

•

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

•

en:borderline elevated low-density lipoprotein

•

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

•

•

en:androgens increased

•

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

•

en:adrenocorticotropic hormone, increased

•

en:abnormal urinary organic acids

•

en:decreased natural killer cells

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:abnormal columnization of chondrocytes

•

en:abacterial leukocyturia

•

en:tyrosinemia (transient, resolves in infancy)

•

en:tsh decreased

•

en:translocation or deletions involving 7p13 (severe case reports)

•

en:transient neonatal hypoglycemia (2p21del)

•

en:thyroid dyshormonogenesis 4

•

en:structural abnormalities seen on chromosome analysis

•

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

•

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

•

en:skewed x-inactivation in females

•

en:decreased levels of plasma factor viii

•

en:tenascin x deficiency (serum and fibroblasts)

•

en:decreased plasma esterified cholesterol

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:decreased plasma total and free carnitine

•

en:hypogammaglobulinemia

•

en:hypoketotic hypoglycemia

•

en:hypernatriuria

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:hyperglycinuria (disorder)

•

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

•

en:high serum osmolality

•

en:folate-dependent fragile site at xq28

•

en:fasting hyperinsulinemia

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated urine ceramide levels

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:hyperprostaglandinuria

•

en:elevated sepiapterin in csf

•

en:decreased switched memory b cells

•

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

•

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

•

en:decreased scad activity

•

en:decreased serum iron (in some patients)

•

en:decreased sulfite oxidase activity

•

en:decreased serum complement factor h

•

en:decreased testosterone level

•

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

•

en:elevated 3-hydroxypropionic acid

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

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

•

en:elevated cerebrospinal fluid (csf) protein

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum levels of free plasma thyroid hormones

•

en:increased serum methionine

•

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

•

en:increased uric acid level

•

en:increased thymine and dihydrothymine in bodily fluids

•

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

•

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

•

en:increased urinary 3-oh-butyric acid

•

en:increased urinary catecholamines

•

en:increased serum growth hormone levels

•

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

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased serum acyl carnitines

•

en:increased serum acylcarnitines

•

en:increased plasma lactate

•

en:increased peripheral blood monocytes

•

en:increased interferon-alpha signal

•

en:increased csf glycine

•

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

•

en:impaired mitochondrial translation

•

en:igg, decreased

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

•

en:increased urinary cortisol/cortisone ratio

•

en:microscopic hematuria

•

en:increased urinary creatine-to-creatinine ratio

•

en:myoglobinuria (reported in 1 patient)

•

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

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:phosphorylase kinase normal in muscle

•

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

•

en:pcs involves most of all chromosomes of a metaphase

•

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

•

en:partial deficiency of factor xi(c)

•

en:organic aciduria, mild (in some patients)

•

en:normal or increased serum creatine kinase

•

en:normal lysyl oxidase activity

•

en:normal aldosterone

•

en:normal 46,xy karyotype

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes

•

en:increased urinary excretion of coproporphyrin i

•

en:mild elevation of transaminases

•

en:methionine adenosyltransferase deficiency

•

en:median mean platelet volume (mpv) 12.5fl

•

en:low or normal serum igm

•

en:low or normal serum calcium

•

en:low fasting glucose (in some patients)

•

en:loss of ciliary beat coordination

•

en:keratan sulfaturia in some patients

•

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

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urinary potassium

•

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

•

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

•

en:hyperuricosuria

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

en:hypercalciuria (in childhood)

•

en:decreased acetyl-coa carboxylase activity

•

en:decreased or absent steroid sulfatase activity

•

en:decreased monoamine oxidase a activity

•

en:decreased metabolism of thiopurine drugs

•

en:decreased hdl cholesterol

•

en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values

•

en:decreased clot retraction

•

en:decreased circulating cortisol level

•

en:decreased ciliary motility

•

en:decreased blood levels of cationic amino acids

•

en:decreased aminoacylase-1 activity

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased activity of complement factor d

•

en:citrullinemia

•

en:decreased or normal serum factor b

•

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

•

en:blood urea nitrogen increased

•

en:ballooned neurons

•

en:antithrombin iii deficiency

•

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

•

en:aneuploidy of the x chromosome

•

en:alpha fetoprotein increased

•

en:abnormal transferrin isoelectric focusing (ief)

•

en:abnormal dystrophin on muscle biopsy

•

en:abnormal acylcarnitine profiles

•

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

•

en:polycythemia

•

en:decreased or normal plasma insulin

•

en:decreased phgdh activity (fibroblasts)

•

en:hyperammonemia

•

en:epstein-barr viraemia

•

en:hydrocortisone decreased

•

en:homocysteinemia (in some patients)

•

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

•

en:heteroplasmic partial duplication of mtdna

•

en:glutathione deficiency

•

en:generalized aminoaciduria

•

en:folic acid deficiency

•

en:foam cells in visceral organs and cns

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fibrinogen decreased

•

en:fasting hypoglycemia (early in disease course)

•

en:ethylmalonic aciduria

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:elevated sed rate

•

en:elevated plasma levels of lp(a)

•

en:elevated fasting triglycerides

•

en:elevated alkaline phosphatase of bone origin

•

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

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:deficiency or absence of p67-phox protein (type ii)

•

en:defective dna repair after ultraviolet radiation damage

•

en:decreased urinary excretion of uromodulin

•

en:decreased serum rt3

•

en:decreased red cell pyruvate kinase activity

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:elevated serum transaminases during infections

•

en:positive urine dnph screening test

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:lactate high

•

en:ketoacidosis

•

en:increased urinary excretion of camp

•

en:increased urinary and serum glycine

•

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

•

en:increased serum unconjugated bilirubin

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased plasma renin activity

•

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

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:increased interleukin 10

•

en:increased csf and plasma ghb

•

en:low level of c4 and c2

•

en:increased ck-mb

•

en:increased 18-oxocortisol

•

en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

•

en:hypocalcemia, transient

•

en:hyperlipidemia

•

en:hyperkalemia during attacks

•

en:hyperchloremia (mean 111 mm)

•

en:homocystinemia

•

en:homocysteinemia

•

en:hereditary factor x deficiency

•

en:glycogen accumulation in both liver and muscle

•

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

•

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

•

en:markedly reduced igg levels

•

en:exercise-induced myoglobinuria in adults

•

en:no ketonuria

•

en:pyruvic acidemia

•

en:xanthine nephrolithiasis

•

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

•

en:variably increased serum creatine kinase

•

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

•

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

•

en:undetectable epinephrine (adrenaline) in plasma, urine, csf

•

en:thyroid hormone organification defect

•

en:serum calcium elevated

•

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

•

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

•

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

•

en:no hyperuricemia

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:no histochemical evidence of mitochondrial myopathy.

•

en:normal urinary cyclic amp response to pth administration

•

en:normal serum folate levels

•

en:normal pyridinoline excretion in urine

•

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

•

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

•

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

•

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

•

en:n-glycosylation defect

•

en:myoglobinuria with extreme exertion

•

en:monomeric igm

•

en:mildly elevated acth

•

en:foam cells in bone marrow and renal glomeruli

•

en:vacuolated lymphocytes

•

en:excessive urinary 5-oxo-l-proline

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

en:decreased activity of nadph oxidase

•

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

•

en:cystathionine beta-synthase deficiency disease

•

en:chromosomal instability

•

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:bicarbonaturia

•

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

•

en:atrial abnormalities on electrocardiogram

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:abnormal transaminases (1 patient)

•

en:abnormal phospholipid profile

•

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

•

en:abnormal oral glucose tolerance

•

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

•

en:laboratory abnormalities

•

en:variable defects of inner dynein arms

•

en:type i, classic, decreased antithrombin iii levels

•

en:triglyceride decreased

•

en:sweat test normal

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum calcium normal

•

en:saccharopine dehydrogenase deficiency

•

en:reduced ferrochelatase activity

•

en:enzyme replacement therapy has not been effective

•

en:decreased adenosylcobalamin

•

en:serum iron low (finding)

•

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

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

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

•

en:elevated plasma insulin

•

en:elevated sweat chloride

•

en:elevated bilirubin (bilirubinemia)

•

en:elevated 17-hydroxyprogesterone

•

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

•

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

•

en:distal xp22.3 segmental monosomy

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

en:decreased serum leptin

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

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

•

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

•

en:decreased phk activity in liver

•

en:decreased fibroblast alpha-mannosidase

•

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

•

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

•

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

•

en:decreased methionine synthase activity

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased mitochondrial nadp(h)

•

en:decreased numbers of t regulatory cells

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

en:orotic aciduria

•

•

en:no metabolic abnormalities

•

en:oestradiol decreased

•

en:poor mitogenic response to growth factors

•

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

•

en:presence of pc mrna

•

en:raised tsh level

•

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

•

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

•

en:resistance to 1,25-dihydroxyvitamin d3

•

en:normal urinary orotic acid

•

en:normal or mildly reduced serum cobalamin

•

en:normal plasma renin

•

en:normal or mildly increased serum creatine kinase

•

en:normal cd8+/cd4+ ratio

•

en:negative nitroblue tetrazolium (nbt) reduction test

•

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

•

en:monoclonal gammopathy

•

en:mitochondrial deletions

•

en:mild eosinophilia may occur

•

en:methylsuccinic aciduria

•

en:markedly elevated sodium in urine, sweat, saliva, and stool

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low serum cortisol

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

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

•

en:serum bicarbonate increased

•

en:antithrombin iii decreased

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:increased urinary carnitine

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased activity of pyruvate dehydrogenase complex

•

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 sphingomyelinase activity (less than 5%)

•

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

•

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

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:bilirubin may or may not be increased

•

en:aspartylglycosaminuria

•

en:anomalies of cholesterol levels

•

en:serum creatine kinase may be normal or elevated

•

en:absent 7-dehydrocholesterol

•

en:absence of cpt ii protein

•

en:abnormal nasal potential difference

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal lipid profile

•

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

•

en:5-alpha-reductase-2 enzyme deficiency

•

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

•

en:very low igm

•

en:urinary prostaglandin e

•

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

•

en:low growth hormone levels

•

en:electrocardiogram abnormal

•

en:increased urinary 3-oh-propionic acid

•

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

•

en:defective mitochondrial respiratory enzyme activity

•

en:defective bile acid metabolism

•

en:decreased udp-glcnac

•

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

•

en:decreased serum trypsinogen

•

en:decreased or increased serum testosterone

•

en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes

•

en:decreased mitochondrial complex v assembly

•

en:decreased fibrinogen (in some patients)

•

en:decreased copper, iron, zinc

•

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

•

en:b lymphocytopenia

•

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

•

en:beta-glucuronidase deficiency in fibroblasts and leukocytes

•

en:anti-ds dna antibody

•

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

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

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

•

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

•

en:abnormal n-glycosylation of transferrin

•

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

•

en:abnormal electrophoretic mobility of type ii collagen

•

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

•

en:decreased cobalamin in liver, kidney, and cultured fibroblasts

•

en:deficiency of fat-soluble vitamins

•

en:deficiency or absence of p91-phox protein

•

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

•

en:hyperoxaluria

•

en:increased serum ferritin

•

en:increased lysine in serum and csf

•

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

•

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

•

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

•

en:increased blood alanine

•

•

en:hypoproteinemia (in 1 patient)

•

en:hypocalcemia

•

en:hypoalphalipoproteinemia

•

en:hypoalbuminemia

•

en:hyperlysinemia

•

en:elevated 2-ketoglutarate (urine)

•

en:hypercholesterolemia (reported in 2 patients)

•

en:homozygous 122kb deletion 11p15-p14

•

en:high sister chromatid exchange (sce) rate

•

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

•

en:globulin gamma serum plasma increased result

•

en:galactosuria

•

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

•

en:fibronectin decreased

•

en:elevated serum iron and iron binding capacity

•

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

•

en:elevated leukotriene e(4)

•

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

•

en:decreased beta-thromboglobulin

•

en:decreased serum factor h (atypical hus)

•

en:decreased dermal hydroxylysine content

•

en:increased urinary propionyl glycine

•

en:normal cerebrospinal fluid

•

en:myoglobinuria after exertion

•

en:mild to moderate hyperammonemia

•

en:mild elevation of cholesterol

•

en:methioninuria

•

en:metachromasia of white blood cells and fibroblasts

•

en:mean platelet volume (mpv) 12.6fl

•

en:low or absent follicle stimulating hormone (fsh)

•

en:long-chain ketonuria

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary malic acid

•

en:normal lysyl hydroxylase activity

•

en:increased urinary fumaric acid

•

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

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:increased serum thyrotropin

•

en:increased serum manganese

•

en:increased serum gamma-ggt (231950)

•

en:increased serum, urinary, and csf lysine

•

en:increased pristanic acid

•

en:increased platelet aggregation with ristocetin

•

en:increased plasma pristanic acid

•

en:normal csf 5-hiaa

•

en:normal male karyotype (46,xy)

•

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

•

en:rheumatoid factor negative

•

en:vitamin k deficiency

•

en:very low igg

•

en:upregulation of alpha-interferon-stimulated genes

•

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

•

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

•

en:decreased fibroblast beta-hexosaminidase

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum transferrin glycosylation is normal

•

en:serum creatine kinase 20-70 times normal

•

en:serum cholesterol low or normal

•

en:saposin a deficiency (finding)

•

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

•

en:normal plasma phytanic acid

•

en:proteinuria in those with cystic kidneys

•

•

en:pms show deficient oxidation of debrisoquine

•

en:platelet factor 4 decreased

•

en:pcs shows separate and splayed chromatids with discernible centromeres

•

en:orotic acid crystalluria

•

en:no lactic acidosis

•

en:no chromosomal breakage

•

en:normal serum biotin concentration

•

en:normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:increased plasma homogentisic acid (hga)

•

en:some fragmented or disrupted golgi

•

en:increased il6, episodic

•

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

•

en:elevated plasma ammonia

•

en:elevated hcg (choriocarcinoma)

•

en:elevated ferritin l subunit

•

en:elevated fasting glucose

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated calcitonin

•

en:elevated androstenedione

•

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

•

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

•

en:defect in retrograde intraflagellar transport in cilia

•

en:defect in double-stranded dna repair

•

en:defective dna repair

•

en:elevated serum iron

•

en:decrease or absence of cathepsin d (ctsd) protein immunostaining

•

en:decreased thrombospondin

•

en:decreased tetrasialo-transferrin

•

en:decreased serum ferritin

•

en:decreased plasma triglycerides

•

en:decreased or normal serum factor i

•

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

•

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

•

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

•

en:decreased glycerol kinase activity

•

en:increased csf interferon alpha

•

en:elevated pth (parathyroid hormone)

•

en:decreased intracellular fmr protein

•

en:elevated serum lactate

•

en:hydroxyprolinuria

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:increased alpha-fetoprotein (1 patient)

•

en:impaired response to gm-csf

•

en:hypoalbuminemia (in 83%)

•

en:hyperuricemia

•

en:hyperkalemia (5.8 +/- 0.8 mm)

•

en:hyperhomocystinemia

•

en:hypercholesterolemia (in 75%)

•

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

•

en:hyperbilirubinemia in those with liver failure

•

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

•

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

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:elevated white blood cell cystine

•

en:high plasma triglyceride levels

•

en:eosinophilia, mild

•

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

•

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

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:high plasma citrulline (100-300 micromolar)

•

•

en:hemizygous deletion at 4p16.3

•

en:hepatic argininosuccinase deficiency

•

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

•

en:factor viii deficiency

•

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

•

en:fragmentation of the mitochondrial network

•

en:glomerular filtration rate decreased

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

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

•

en:growth cartilage disorganized, with islands of cells and abnormal collagen arrangement

•

en:high ft3/ft4 ratio

•

en:high ornithine

•

en:hypercalciuria (in some patients)

•

en:hypocalciuria or normocalciuria

•

en:hypercholesterolemia (10%)

•

en:hypergammaglobulinemia

•

en:hyponatremia in infancy

•

en:hypophosphatemia (less common)

•

en:iga antiendomysial antibodies (ema)

•

en:increased 18-hydroxycortisol

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased ammonia with exercise

•

en:increased bile acid intermediates (dhca and thca)

•

en:elevated urinary phosphoethanolamine

•

en:increased biopterin in urine and csf

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:deficiency of serum properdin p factor

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:defective glcnac-pi synthesis

•

en:increased csf immunoglobulin levels

•

en:decreased neopterin and biopterin in urine

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased or normal serum c3

•

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

•

en:decreased plasma and urinary ornithine

•

en:decreased serum thiamine pyrophosphate

•

en:decreased telomerase activity

•

en:decreased whole blood serotonin

•

en:deficiency of creatine phosphate in brain

•

en:elevated uric acid on urinalysis (in some patients)

•

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

•

en:dermatan and heparan sulfate excretion in urine

•

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

•

en:dyskinetic ciliary motility

•

en:echocardiogram abnormal

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

en:elevated plasma and urine succinylacetone

•

en:elevated plasma desmosterol

•

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

•

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

•

en:lysyl hydroxylase deficiency

•

en:increased csf transferrin despite normal serum transferrin levels

•

en:prolonged prothrombin time (pt)

•

en:normal phytanic acid

•

en:normal serum transferrin profiles

•

en:normal sweat electrolytes

•

en:no c8 antigen detected

•

en:pancreatic trypsinogen deficiency

•

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

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

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

•

en:prolonged partial thromboplastin time (ptt)

•

en:reticulocytosis

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:serum c-reactive protein may be increased

•

en:serum gastrin increased

•

en:serum iron normal

•

en:shortened telomeres (1 patient)

•

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

•

en:thyroid dyshormonogenesis 3

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

en:undetectable plasma dbh activity

•

en:urine odor, maple syrup

•

en:very low density lipoprotein increased

•

en:mild elevation of triglycerides

•

en:low serum uric acid

•

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

•

en:increased urinary hga

•

en:increased iga level

•

en:increased igg level

•

en:increased serum and csf glycine

•

en:increased serum beta-hexosaminidase

•

en:increased serum methionine (reported in 2 cases)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary carnitine esters

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary succinic acid

•

en:low serum levels of ketone bodies

•

en:increased urine vanillactic acid (vla)

•

en:indirect hyperbilirubinemia

•

en:intracellular granular material on ultrastructural analysis

•

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

•

en:iron overload (in some patients)

•

en:keratan sulfate excretion in urine that decreases with age

•

en:lack of ciliary motility

•

en:low acth level

•

en:low density lipoprotein increased

•

en:low or low-normal serum t4

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6880751 • caches: c1=8 c2=1003 c3=1

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