Diko : en:increased plasma long-chain acylcarnitines

en:increased plasma long-chain acylcarnitines

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1837267

Associations d'idées

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1000

en:type 1 collagen overmodification

•

en:hyperprolinemia (10-15 times normal)

•

en:prolonged prothrombin time (pt)

•

en:absence of outer dynein arms

•

en:cystathioninemia

•

en:decreased fbp1 enzyme activity

•

en:decreased leptin

•

en:decreased serum b12 levels

•

en:elevated alkaline phosphatase of bone origin

•

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

•

en:glycogen storage disease type v

•

en:histiocytic infiltration of liver, spleen, and lungs

•

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

•

en:immotile cilia

•

en:elevated serum parathyroid hormone (pth) level

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased serum thyrotropin

•

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

•

en:hyperglycinuria (disorder)

•

en:hyperkalemia during attacks

•

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

•

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

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:partial deficiency of factor xi(c)

•

en:organic aciduria, mild (in some patients)

•

en:abnormal columnization of chondrocytes

•

en:decreased beta-galactosidase activity

•

en:decreased fibroblast arylsulfatase a

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased tissue total and free carnitine

•

en:elevated creatine kinase (in some patients)

•

en:hyperlipoproteinemia type i

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum osteocalcin

•

en:hypermagnesiuria

•

en:aldosterone level increased above normal

•

en:elevated crp

•

en:elevated testosterone

•

en:urine uric acid decreased

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:increased plasma homogentisic acid (hga)

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:lactic acidosis

•

en:ornithine-delta-aminotransferase (oat) deficiency

•

en:phosphaturia may disappear after a long period of time

•

en:decreased serum haptoglobin

•

en:hyperarginemia

•

en:lactate dehydrogenase increased

•

en:increased serum total cholesterol

•

en:increased free cyanocobalamin in fibroblasts

•

en:absent axonal flare response after intradermal histamine injection

•

en:elevated urinary epinephrine

•

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

•

en:decreased plasma free carnitine

•

en:decreased activity of phosphoglycerate kinase 1

•

en:albuminuria

•

en:low urinary cyclic amp response to pth administration

•

en:reduced ferrochelatase activity

•

en:phosphaturia (in some)

•

en:elevated serum transaminases during infections

•

en:severely decreased palmitate oxidation

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:normal cerebrospinal fluid

•

en:increased prv-1 (162860) mrna

•

en:no dicarboxylic aciduria

•

en:elevated hcg (choriocarcinoma)

•

en:electron microscopy of foam cells shows lamellar inclusions

•

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

•

en:decreased cortisol-binding globulin

•

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

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:alpha fetoprotein increased

•

en:bone marrow hypoplasia (in some patients)

•

en:decreased activity of galactocerebrosidase

•

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

•

en:hyperchloridura

•

en:increased renal tubular phosphate reabsorption

•

en:increased urinary ketones

•

en:intermediate level of cellular sensitivity to uv light

•

en:hematuria, gross and microscopic

•

en:no chromosome breakage

•

en:increased il18

•

en:creatine kinase levels may normalize with disease progression

•

en:serum cortisol decreased

•

en:normal pyridinoline excretion in urine

•

en:mildly elevated hdl in heterozygotes

•

en:serum triglycerides normal

•

en:increased chromosomal breakage

•

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

•

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

•

en:decreased asparagine levels (in some patients)

•

en:neutral hyperaminoaciduria

•

en:coarse metachromatic granules in white blood cells

•

en:decreased cpt1 activity

•

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

•

en:increased serum lactate (in some patients)

•

en:methylmalonic aciduria, mild

•

en:normal or mildly reduced serum cobalamin

•

en:rheumatoid factor positive (finding)

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:unresponsive to acth stimulation

•

en:decreased tissue and serum alkaline phosphatase

•

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

•

en:elevated 8-dehydrocholesterol

•

en:mildly increased serum lactate

•

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

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:thrombocytopenia

•

en:serum folate normal

•

en:propionic acidemia

•

en:normal igm levels

•

en:decreased serum factor b (atypical hus)

•

en:karyotype analysis normal finding

•

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

•

en:antiphospholipid antibody

•

en:decreased beta-glucosidase protein and activity

•

en:biotinidase deficiency

•

en:abnormal liver enzymes, intermittent

•

en:neutropenia (in 1 patient)

•

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

•

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

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:upregulation of alpha-interferon-stimulated genes

•

en:serum transferrin shows normal or mild hypo-glycosylation

•

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

•

en:normal csf 5-hiaa

•

en:hypoketotic hypoglycemia

•

en:hepatic ornithine transcarbamylase deficiency

•

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

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

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

•

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

•

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

•

en:phosphorylase kinase normal in muscle

•

en:marked elevation of erythrocyte sedimentation rate

•

en:increased urinary acetoacetic acid

•

en:increased serum prostaglandin e2

•

en:amylo-1,6-glucosidase deficiency

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:elevated serum phosphate in heterozygotes

•

en:elevated serum parathyroid hormone (pth)

•

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

•

en:decreased hexokinase activity in red blood cells

•

en:decreased aminoacylase-1 activity

•

en:reduced bending capacity of cilia

•

en:serum calcitonin, increased

•

en:4-hydroxyphenylactic aciduria

•

en:low serum alpha-fetoprotein (recessive)

•

en:aminoaciduria, intermittent

•

en:thyroid dyshormonogenesis 3

•

en:some cilia show abnormal beating patterns or immotility

•

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

•

en:mild hyperammonemia

•

en:low or absent adrenocorticotropic hormone (acth)

•

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

•

en:increased serum beta-hexosaminidase

•

en:hypokalemia occurs during paralytic attacks

•

en:elevated fasting glucose

•

en:decreased circulating aldosterone level

•

en:elevated plasma methionine (methioninemia)

•

en:methylmalonic acidemia

•

en:low copper and ceruloplasmin

•

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

•

en:elevated sed rate

•

en:normal isoelectric focusing of serum transferrin

•

en:decreased transferrin increased serum iron

•

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

•

en:decreased activity of complement factor d

•

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

•

en:abnormal urinary oligosaccharides

•

en:abnormal urinary compounds

•

en:myoglobinuria after exertion (in some patients)

•

en:increased 11-deoxycorticosterone

•

en:prolonged partial thromboplastin time

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:parathyroid hormone normal

•

en:normal csf neurotransmitters

•

en:hypercholesterolemia (10%)

•

en:hyperbilirubinemia

•

en:decreased serum bun

•

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

•

en:chondroitin 6-sulfate excretion in urine

•

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

•

en:smooth muscle antibodies positive

•

en:serum creatine kinase may be normal or elevated

•

en:increased tissue long-chain acylcarnitines

•

en:increased serum creatine kinase, mild

•

en:increased serum creatine kinase in patients with muscle involvement

•

en:increased serum direct bilirubin

•

en:increased serum lactate dehydrogenase (ldh)

•

en:increased serum s-adenosylmethionine

•

en:keratan sulfaturia in some patients

•

en:increased uric acid level

•

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

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased very-long chain fatty acids

•

en:irregularly shaped sperm heads

•

en:increased plasma pristanic acid

•

en:ketonemia

•

en:increased platelet aggregation with ristocetin

•

en:increased csf protein

•

en:increased plasma phytanic acid

•

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

•

en:increased intracellular fmrp mrna

•

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

•

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

•

en:increased csf threonine

•

en:liver phosphorylase kinase (phk) deficiency

•

en:increased csf homovanillic acid (hva)

•

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

•

en:immunoglobulin antibodies present

•

en:hyponatremic dehydration, rarely

•

en:hypocalciuria

•

en:hypocalcemia (64% of adults)

•

en:hypertryptophanemia

•

en:hyperlysinemia

•

en:liver enzymes abnormal

•

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

•

en:low-normal igm

•

en:no increased sensitivity to oxidative species

•

en:serum corticosterone increased

•

en:serum c-peptide and glucagon levels measurable

•

en:saccharopine dehydrogenase deficiency

•

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

•

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

•

en:reduced ige levels

•

en:positive urine dnph screening test

•

en:positive kveim-siltzbach skin test

•

en:poor mitogenic response to growth factors

•

en:pipecolic acidemia

•

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

•

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

•

en:no metabolic abnormalities

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:normal urinary 17-ketosteroids

•

en:low cd4+ count

•

en:mitochondrial deletions

•

en:low urinary orotic acid

•

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

•

en:markedly reduced iga levels

•

en:heteroplasmic partial duplication of mtdna

•

en:microscopic hematuria

•

en:microtubule disorganization in some cilia

•

en:mitochondria dna deletion

•

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

•

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

•

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

•

en:myoglobinuria (reported in 1 patient)

•

en:normal iga levels

•

en:normal or mildly increased serum creatine kinase

•

en:normal plasma renin

•

en:hyperglycemias, postprandial

•

en:epstein-barr viraemia

•

en:gamma-glutamylcysteine deficiency

•

en:aprt deficiency measured in erythrocyte lysate

•

en:decreased adiponectin

•

en:decreased activity of tyrosine hydroxylase

•

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

•

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

•

en:decreased activities of multiple sulfatases

•

en:citrullinemia

•

en:cilia show inner and outer dynein arm defects

•

en:chronic hypercapnia

•

en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

•

en:blood urea nitrogen increased

•

en:bilirubin conjugated increased

•

en:ballooned neurons

•

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

•

en:at least 2 complementation groups

•

en:antiribonuclear protein positive

•

en:decreased complement factor d

•

en:aminoaciduria (rare)

•

en:aminoaciduria (in some patients)

•

en:alkaline phosphatase serum increased

•

en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency

•

en:acute-phase reactants during fever

•

en:absent or abnormal thyroglobulin

•

en:absence of chylomicrons in lymph and plasma

•

en:abnormal n-glycosylation of transferrin

•

en:abnormal liver function tests (less common)

•

en:abnormal liver function test

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:3-methylglutaconic aciduria (3-mgc)

•

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

•

en:sweat test normal

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased hdl cholesterol

•

en:galactosuria

•

en:electrolyturia (1 patient)

•

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

•

en:fibrinogen decreased

•

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

•

en:ethylmalonic aciduria

•

en:elevated urinary pyridinoline and deoxypyridinoline

•

en:elevated serum protein

•

en:elevated serum acid phosphatase

•

en:elevated plasma estrogen

•

en:elevated liver enzymes

•

en:elevated hepatic transaminases

•

en:elevated alkaline phosphatase (in one patient)

•

en:elevated acth

•

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

•

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

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

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

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased nasal nitric oxide (in some patients)

•

en:decreased neopterin and biopterin in csf

•

en:decreased nk cells (in some patients)

•

en:decreased or absent serum ceruloplasmin

•

en:decreased or normal serum factor b

•

en:decreased plasma serine

•

en:decreased serum haptoglobin (in some patients)

•

en:deficient fibroblast aicar-tf activity

•

en:decreased serum levels of maoa products

•

en:decreased thyroxine level

•

en:decreased urinary excretion of uromodulin

•

en:decreased uros activity (1 patient)

•

en:defect in mitochondrial and peroxisomal fission

•

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

•

en:skewed x-inactivation in females

•

en:decreased factor xi

•

en:t-lymphocytopenia

•

en:increased urinary excretion of cystine

•

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

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low density lipoprotein increased

•

en:leukocytosis

•

en:ketosis

•

en:intermittent severe hypoglycemia (in some patients)

•

en:intermittent 3-methylglutaconic aciduria

•

en:incresased urinary pyruvate

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary sulfatide excretion

•

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

•

en:increased urinary neopterin

•

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

•

en:increased urinary excretion of l-xylulose

•

en:increased urinary 2-oxoglutaric acid

•

en:lysyl hydroxylase deficiency

•

en:increased uric acid with exercise

•

en:increased serum methionine (reported in 2 cases)

•

en:increased serum butyryl carnitine

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased rai (radioactive iodine) uptake

•

en:increased il-6

•

en:increased fractional excretion of uric acid

•

en:increased csf immunoglobulin levels

•

en:increased csf histidine

•

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

•

en:increased biopterin in urine and csf

•

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

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hypomethioninemia

•

en:low to low-normal magnesium

•

en:medium chain dicarboxylic aciduria

•

en:high urinary copper

•

en:pipecolic acid accumulation.

•

en:very low igg

•

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

•

en:urinary excretion of low-molecular-weight proteins, mild

•

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

•

en:t cells may be increased or decreased

•

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

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

en:serum transferrin glycosylation is normal

•

en:serum aldosterone elevated

•

en:round, yellow-brown dha urine crystals

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:persistent ebv viremia

•

en:methylmalonyl-coenzyme a mutase deficiency

•

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

•

en:mildly elevated acth

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

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

•

en:n-glycosylation defect

•

en:neonatal hyperbilirubinemia

•

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

•

en:paradoxical increased cortisol secretion on dexamethasone suppression test

•

en:normal lysl hydroxylase activity

•

en:normal renin level

•

en:normal serum biotin concentration

•

en:normal to increased plasma glycine

•

en:normal urinary cyclic amp response to pth administration

•

en:no evidence of common prenatal infections

•

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

•

en:slightly increased serum alkaline phosphatase may occur

•

en:high ornithine

•

en:bile shows increased cholesterol/phospholipid ratio

•

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

•

en:decreased fibroblast beta-hexosaminidase

•

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

•

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

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:decreased c3 antigen

•

en:decreased activity of mitochondrial respiratory chain complex i

•

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

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:cytochrome c oxidase deficiency in skeletal muscle and brain

•

en:continuous urinary iodine loss

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:cd4+/cd8+ ratio often reversed

•

en:blood pyruvic acid increased

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

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

•

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

•

en:aminoadipic semialdehyde synthase (aass) deficiency

•

en:alkaline phosphatase normal

•

en:absent anti-insulin receptor antibodies

•

en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)

•

en:abnormal myelination in sural nerve biopsies

•

en:abnormal cartilage collagen on em

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:laboratory abnormalities

•

en:vitamin d deficiency

•

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

•

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

•

en:hereditary xanthinuria

•

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

•

en:decreased intracellular fmr protein

•

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

•

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

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

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

•

en:elevated plasma insulin

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated serum lactate

•

en:elevated white blood cell cystine

•

en:fibroblasts attach poorly

•

en:foam cells in bone marrow and renal glomeruli

•

en:elevated il1-beta

•

en:gaucher disease, type 1

•

en:glutaric aciduria

•

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

•

en:gonadotrophin increased

•

en:decreased or absent apolipoprotein a-i

•

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

•

en:elevated long-chain acylcarnitine species (in some patients)

•

en:glycogen storage disease type vi

•

en:elevated erythrocyte adenosine deaminase

•

en:decreased serum factor h (atypical hus)

•

en:elevated cerebrospinal fluid (csf) protein

•

en:decreased or absent glycogen branching enzyme activity

•

en:decreased serum acth

•

en:decreased plasma and urinary ornithine

•

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

•

en:decreased serum leptin

•

en:decreased thrombospondin

•

en:decreased urinary calcium and phosphate excretion

•

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

•

en:direct hyperbilirubinemia

•

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

•

en:elevated 3-hydroxypropionic acid

•

en:elevated androstenedione

•

en:medium-chain acyl-coa dehydrogenase deficiency

•

en:low serum ceruloplasmin

•

en:low serum magnesium

•

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

•

en:normal ciliary structure and function

•

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

•

en:methylsuccinic aciduria

•

en:mildly elevated transaminases

•

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

•

en:normal b12

•

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

•

en:low or undetectable insulin

•

en:increased urinary cortisol/cortisone ratio

•

en:low or normal serum calcium

•

en:low fasting glucose (in some patients)

•

en:iron low

•

en:interstitial deletion of 17p11.2 (most common is 3.7mb)

•

en:increased urinary n-acetylated amino acids

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased serum methionine

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:increased serum ferritin

•

en:increased serum creatine kinase during episodes

•

en:increased serum c-reactive protein, episodic

•

en:increased serum and urinary lactate

•

en:increased csf lactate

•

en:increased gamma-interferon

•

en:normal extrarenal responses to ddavp administration

•

en:reduced erythrocyte adenosine deaminase activity

•

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

•

en:routine liver function tests normal

•

en:abnormal eeg in 25% hospitalized patients

•

en:increased activity of the prpp synthetase 1 enzyme

•

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

•

en:abetalipoproteinemia (lab finding)

•

en:abacterial leukocyturia

•

en:very low igm

•

en:triglyceride decreased

•

en:transferase deficiency galactosemia

•

en:structural abnormalities seen on chromosome analysis

•

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

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:secondary decrease of plasma free carnitine

•

en:secondary decreased activity of argininosuccinate synthetase (ass1)

•

en:rhabdomyolysis in response to alcohol

•

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

•

en:reduced erythrocyte gs activity

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:raised tsh level

•

en:protein c decreased

•

en:platelet function test normal

•

en:phytanic acid increased

•

en:p5c levels increased in urine

•

en:orotic aciduria

•

en:no cartilage staining with toluidine blue

•

en:normocalcemia

•

en:normal transferrin saturation

•

en:normal to slightly high alkaline phosphatase

•

en:normal serum plasmalogen

•

en:increased cholesterol

•

en:decreased mitochondrial complex iii activity in muscle

•

en:immunoreactive pc protein

•

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

•

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

•

en:decreased copper, iron, zinc

•

en:decreased clot retraction

•

en:decreased beta-oxidation of pristanic acid

•

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

•

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

•

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

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

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

•

en:cytogenetic deletion of chromosome 17p13.3

•

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

•

en:creatine kinase normal between episodes

•

en:chromosomal mosaicism in cultured cells

•

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

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

en:anti-iga antibodies commonly present

•

en:aneuploidy of the x chromosome

•

en:aminoaciduria

•

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

•

en:accumulation of guanidinoacetate in brain

•

en:abnormal transferrin isoelectric focusing (ief)

•

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 1 pattern)

•

en:3-methylglutaric aciduria (3-mga)

•

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

•

en:accumulation of cholesterol esters in various tissues

•

en:decreased dna excision repair

•

en:decreased or absent pts activity

•

en:iiga and igg antigliadin antibodies (aga)

•

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

•

en:igg, decreased

•

en:hypoprebetalipoproteinemia

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypocalcemia

•

en:hypertriglyceridemia

•

en:hyperoxaluria

•

en:high serum inosine levels

•

en:hepatic argininosuccinate synthetase deficiency

•

en:glycogen storage disease type vii

•

en:glutathione deficiency

•

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

•

en:fucosidosis

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

en:erythrocyte porphobilinogen (pbg) deaminase deficiency (exception: type ii aip)

•

en:decreased serum c3 (atypical hus)

•

en:elevated urinary 3-methylglutarate

•

en:elevated csf glycine

•

en:elevated csf/plasma glycine ratio

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

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

•

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

•

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

•

en:dehydration

•

en:decrease plasma serine (fasting)

•

en:decreased telomere length in lymphocytes

•

en:decreased sulfite oxidase activity in fibroblasts

•

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

•

en:decreased serum ceruloplasmin

•

en:abnormal lipid profile

•

en:iodide organification defect

•

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

•

en:increased urinary excretion of camp

•

en:nephrotic syndrome

•

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

•

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

•

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

•

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

•

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

•

en:low level of c4 and c2

•

en:low acth level

•

en:iron binding capacity total increased

•

en:increased urinary propionyl glycine

•

en:increased urinary oxylate

•

en:increased urinary o-linked sialopeptides

•

en:increased urinary malic acid

•

en:increased urinary creatine

•

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

•

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

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum gamma-ggt (231950)

•

en:increased serum creatine kinase (1 family)

•

en:increased serum bilirubin (in some patients)

•

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

•

en:inappropriately normal or increased plasma hepcidin

•

en:impairment of urinary concentration

•

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

•

en:igm deficiency

•

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

•

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

•

en:hypocalcemia, transient

•

en:raised c-reactive protein

•

en:antineutrophil antibody positivity

•

en:urinary excretion of 3-methylcrotonylglycine, chronic

•

en:undetectable serum l-transferrin (homozygous patient)

•

en:translocation of chromosomes 9 and 13

•

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

•

en:serum pristanic acid increased

•

en:serum creatine kinase may be normal

•

en:serum bilirubin increased

•

en:saposin a deficiency (finding)

•

en:russell's viper venom assay may be prolonged or normal, depending on the genetic defect

•

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

•

en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:pt normal

•

en:normal serum phytanic and pristanic acid

•

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

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

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

•

en:postprandial hyperglycemia (early in disease course)

•

en:positive antinuclear antibody test

•

en:platelet glycoprotein iiia deficiency

•

en:platelet antibody positive

•

en:pancreatic trypsinogen deficiency

•

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

•

en:no ketonuria

•

en:no chromosomal breakage

•

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

•

en:hypogammaglobulinemia (in some patients)

•

en:serum c-reactive protein may be increased

•

en:hyperphenylalaninemia

•

en:decreased fumarate hydratase activity

•

en:decreased switched memory b cells

•

en:decreased serum androgens

•

en:decreased scad activity

•

en:decreased renal calcium excretion

•

en:decreased platelet derived growth factor

•

en:decreased plasma esterified cholesterol

•

en:decreased plasmalogens

•

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

•

en:decreased or normal serum factor i

•

en:decreased or normal serum c3

•

en:decreased or absent udp-glucuronyl-transferase activity

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased erythrocyte plasmalogen

•

en:decreased triiodothyronine level

•

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

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased activity of ppt1

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:cytoplasmic lamellar concentric inclusions

•

en:creatine phosphokinase increased

•

en:complex organic aciduria

•

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

•

en:bleeding time normal

•

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

•

en:hypermagnesemia

•

en:antithrombin iii decreased

•

en:decreased testosterone level

•

en:cilia may also be static, with slow activity

•

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

•

en:elevated serum transferrin saturation

•

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

•

en:decreased whole blood serotonin

•

en:holocarboxylase synthetase deficiency

•

en:hepatic carbamoylphosphate synthetase i deficiency

•

en:homocysteinemia

•

en:glycosuria

•

en:glycinuria

•

en:folate-dependent fragile site at xq28

•

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

•

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

•

en:elevated urine ceramide levels

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

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

•

en:hematuria

•

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

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:dyskinetic ciliary motility

•

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

•

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

•

en:deficiency of creatine phosphate in brain

•

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

•

en:elevated gamma-glutamyltransferase (ggt)

•

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

•

en:elevated levels of vitamin b12

•

en:elevated plasma cholestanol

•

en:elevated plasma desmosterol

•

en:elevated propionate

•

en:increased urinary potassium

•

en:increased urinary dopamine

•

en:increased soluble il2 receptor

•

en:increased serum vitamin b12

•

en:increased serum triiodothyronine (t3)

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased serum thrombopoietin may occur

•

en:increased serum lysine (group b)

•

en:increased serum lactate (patient a)

•

en:increased serum lactate

•

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

•

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

•

en:increased serum fgf23

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum bilirubin due to hemolysis

•

en:increased serum arylsulfatase a.

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:increased plasma renin activity

•

en:increased plasma proglucagon

•

en:increased plasma lactate

•

en:increased peripheral blood monocytes

•

en:increased neopterin in urine and csf

•

en:increased lysine in serum and csf

•

en:increased lactate in spinal fluid

•

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

•

en:normal 46,xy karyotype

•

en:iodine depletion

•

en:normal parathyroid hormone (female)

•

en:pyruvic acidemia

•

en:increased ferritin

•

en:protein urine absent

•

en:prolonged activated partial prothrombin time (appt)

•

en:osteocalcin increased

•

en:occasionally mild elevation of csf protein

•

en:no hematuria

•

en:normal to mildly increased serum creatine kinase

•

en:normal serum liver enzymes

•

en:normal serum complement levels

•

en:normal sedimentation rate

•

en:normal leukocyte and platelet counts

•

en:lactic acidemia (2p21del)

•

en:normal complex ii activity

•

en:nadh-cytochrome b(5) reductase deficiency

•

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

•

en:myoglobinuria

•

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

•

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

•

en:mild hypertriglyceridemia

•

en:mild elevation of transaminases

•

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

•

en:methionine adenosyltransferase deficiency

•

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

•

en:low rai (radioactive iodine) uptake

•

en:increased igm level

•

en:di- and trihydroxycholestanoic acid accumulation

•

en:increased csf glycine

•

en:decreased levels of serum vitamin b12

•

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

•

en:decreased urinary sulfate

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum cobalamin

•

en:decreased serum and muscle coenzyme q

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased serum 25-hydroxyvitamin d

•

en:decreased s-ado:saicar ratio

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:decreased or normal plasma insulin

•

en:decreased ldl cholesterol

•

en:dyslipidemia

•

en:decreased hepatic gaba transaminase activity

•

en:decreased glutamine in bodily fluids

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

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

•

en:decreased antithrombin iii (rare)

•

en:cystathioninuria (lab finding)

•

en:antineutrophil cytoplasmic antibody

•

en:adenylosuccinase deficiency (finding)

•

en:abnormal serum transferrin pattern (in some patients)

•

en:abnormal liver enzymes, episodic

•

en:5-hiaa csf may be normal or decreased

•

en:serum calcium normal

•

en:deficiency of laminin in basement membranes

•

en:elevated 8(9)-cholestenol

•

en:increased biliverdin in bodily fluids

•

en:high nonceruloplasmin-bound serum copper

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:igg deficiency

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypokalemia

•

en:hyperglycolic aciduria

•

en:hyperglutaminemia

•

en:hyperchloremia (mean 114 mm)

•

en:hyperbilirubinemia, unconjugated, <20mg/dl

•

en:hyperalphalipoproteinemia

•

en:homozygous 122kb deletion 11p15-p14

•

en:homocitrullinuria

•

en:hepatic lipase deficiency (disorder)

•

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

•

en:hematuria (less common)

•

en:hb h erythrocyte inclusions

•

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

•

en:globulin gamma serum plasma increased result

•

en:fibronectin decreased

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:fibroblasts are small and rounded with prominent nucleoli

•

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

•

en:elevated urinary 2-ethylhydracrylate

•

en:elevated serum transaminase levels

•

en:elevated progesterone

•

en:elevated plasma galactose (galactosemia)

•

en:relatively low urinary pge-m levels

•

en:decreased serum carnitine in acute stage

•

en:serum cholesterol normal

•

en:low plasma methionine

•

en:normal sweat electrolytes

•

en:normal plasma total homocysteine

•

en:normal or increased serum phosphate

•

en:normal exocrine pancreatic function

•

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

•

en:multiple autoantibodies

•

en:molybdenum cofactor deficiency

•

en:mild to moderate hyperammonemia

•

en:mild elevation of triglycerides

•

en:methylmalonic aciduria

•

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

•

en:low or normal serum erythropoietin

•

en:normal transferrin isoelectric profile

•

en:low-normal platelet count (89-290 x 10(9)/l)

•

en:iron overload (in some patients)

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:increased urinary l-glycerate

•

en:increased urinary 2-butanone

•

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

•

en:increased serum thymidine

•

en:increased serum lactate (mild)

•

en:increased serum erythropoietin (epo, 133170)

•

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

•

en:increased serum alkaline phosphatase (in some patients)

•

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

•

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

•

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

•

en:serum ferritin hyperglycosylation

•

en:variably increased serum creatine kinase

•

en:urine cortisol, increased

•

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

•

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

•

en:subsarcolemmal pleomorphic mitochondria on em

•

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

•

en:severe amyloid angiopathy

•

en:serum thyroxine may be decreased or normal

•

en:serum lactate is usually normal

•

en:serum iron normal

•

en:serum homocysteine normal

•

en:serum and csf lactate may be increased

•

en:no mucopolysacchariduria

•

en:schirmer test shows alacrima

•

en:rheumatoid factor negative

•

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

•

en:pyruvate-induced insulin secretion

•

en:protein total decreased

•

en:proteinuria

•

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

•

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

•

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

•

en:patient cells show abnormal mitochondrial morphology

•

en:partial deficiency of factor xiii (less common)

•

en:serum phosphate normal

•

en:increased plasma and urinary pipecolic acid

•

en:often integrated hbv sequences in hepatocellular carcinomas

•

en:increased creatinine

•

en:aldolase a deficiency

•

en:decreased csf pyridoxal

•

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

•

en:decreased b cells

•

en:decreased adenosylcobalamin

•

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

•

en:csf pleocytosis, particularly of lymphocytes

•

en:borderline elevated low-density lipoprotein

•

en:anomalies of cholesterol levels

•

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

•

en:aminoaciduria (1 patient)

•

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

•

en:absent 7-dehydrocholesterol

•

en:decreased methylmalonyl-coa mutase activity

•

en:abnormal secretin test

•

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

•

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

•

en:type i, classic, decreased antithrombin iii levels

•

en:transient neonatal hypoglycemia (2p21del)

•

en:transient eosinophilia in first decade

•

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

•

en:severely impaired ciliary motility

•

en:serum transferrin isoelectric focusing shows type 2 pattern

•

en:serum transaminase increased

•

en:serum prolactin decreased

•

en:increased c10:2-carnitine

•

en:decreased levels of the e2 subunit protein

•

en:acute hyperammonemia

•

en:decreased natural killer cells

•

en:glyoxalase deficiency

•

en:hypogammaglobulinemia

•

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

•

en:hypocitraturia

•

en:hypocalciuria or normocalciuria

•

en:hypobetalipoproteinemias

•

en:hyperuricuria

•

en:hyperoxalaemia

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:hydroxyprolinuria

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hematuria, macroscopic and microscopic

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

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

•

en:elevated calcitonin

•

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

•

en:galactosuria without galactosemia

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:distal xp22.3 segmental monosomy

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated inflammatory markers

•

en:elevated urinary ornithine, lysine, arginine

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:low serum levels of ketone bodies

•

en:isovaleric acidemia

•

en:lack of lysosomal inclusions in visceral organs

•

en:large spermatozoa

•

en:little to absent aspartylglucosaminuria activity

•

en:low ldl cholesterol

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:march myoglobinuria

•

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

•

en:mean platelet volume (mpv) 12.6fl

•

en:median mean platelet volume (mpv) 18fl

•

en:methioninuria

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:increased urinary adenosine

•

en:increased serum and urinary 2-oxoglutarate

•

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

•

en:increased thyroid-stimulating hormone (tsh)

•

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

•

en:increased serum pyruvate in acute stage

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased serum lactate in acute stage

•

en:increased serum lactate during metabolic crisis

•

en:increased serum iduronate sulfatase

•

en:increased serum gm-csf

•

en:increased serum creatine kinase in acute stage

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum arylsulfatase a (10-20x)

•

en:increased prevalence among the native american lumbee indians

•

en:mucopolysaccharidosis type iiid

•

en:monomeric igm

•

en:tyrosine iodination defect

•

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

•

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

•

en:vitamin k deficiency

•

en:very low leptin level

•

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

•

en:thyroid hormone organification defect

•

en:spongy degeneration of brain on histology

•

en:some fragmented or disrupted golgi

•

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

•

en:serum mitochondrial autoantibodies

•

en:serum gastrin increased

•

en:serum creatine kinase 20-70 times normal

•

en:serum cholesterol raised

•

en:serum calcium elevated

•

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

•

en:prolonged partial thromboplastin time (ptt)

•

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

•

en:plasma aldosterone increased

•

en:pink urine

•

en:phytanic acid accumulation

•

en:patient cells show increased chromosome breakage

•

en:organic aciduria

•

en:normal to slightly elevated plasma cholesterol

•

en:normal serum transferrin profiles

•

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

•

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

•

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

•

en:normal free urinary cortisol

•

en:normal apoa-ii levels in homozygotes

•

en:neutrophilia, both basal and during infections

•

en:neurofibrillary tangles and neuritic senile plaques rare

•

en:increased plasma proinsulin

◀

Génériques

[F] [H]

›

en:increased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6881432 • caches: c1=36 c2=1368 c3=279

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