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

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

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

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

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

•

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

•

en:transient hyperlipidemia

•

en:abnormal electrophoretic mobility of type ii collagen

•

en:liver phosphorylase kinase (phk) deficiency

•

en:triglyceride decreased

•

en:antineutrophil antibody positivity

•

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

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased urinary taurine

•

en:normal activity of von willebrand factor-cleaving protease

•

en:positive urinary bratton-marshall test

•

en:some fragmented or disrupted golgi

•

en:increased susceptibility to ebv infection

•

en:increased csf immunoglobulin levels

•

en:isovalericaciduria

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased plasma phytanic acid

•

en:decreased udp-glcnac

•

en:hypocalcemia, transient

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

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

•

en:decreased s-ado:saicar ratio

•

en:serum triglycerides increased

•

en:platelet count normal

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:igg deficiency

•

en:bromosulfophthalein test - secondary rise at 90 minutes

•

en:decreased levels of the e2 subunit protein

•

en:high m-component

•

en:hyperammonemia, episodic

•

en:hyperchloridura

•

en:hypocholesterolemia

•

en:mild-moderate prolonged bleeding time

•

en:no chromosomal breakage

•

•

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

•

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

•

en:increased long-chain acylcarnitine

•

en:oligospermia or azoospermia

•

en:myoglobinuria after exertion (in some patients)

•

en:hyperglycemia

•

en:increased csf protein during acute illness

•

en:cystathioninuria (lab finding)

•

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

•

en:folate-dependent fragile site at xq28

•

en:elevated alpha-ketoglutarate (in most patients)

•

en:defect in oxidative phosphorylation

•

en:decreased neopterin and biopterin in csf

•

en:normal serum plasmalogen

•

en:increased urinary 7-biopterin (primapterin)

•

en:raised tsh level

•

en:hyperglycemias, postprandial

•

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

•

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased levels of carcinoembryonic antigen

•

en:hyperuricosuria

•

en:glycogen storage disease type v

•

en:elevated alkaline phosphatase of bone origin

•

en:dyslipidemia

•

en:decreased serum luteinizing hormone (lh)

•

en:abnormal myelination in sural nerve biopsies

•

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

•

en:decreased transferrin increased serum iron

•

en:increased plasma levels of bile acid intermediates

•

•

en:elevated testosterone

•

en:elevated afp (endodermal sinus tumor)

•

en:normal or increased serum phytanic acid

•

en:decreased serum alpha-2 macroglobulin levels

•

en:decreased plasma apolipoprotein b (apob, 107730)

•

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

•

en:chromosome 11q23.3 deletion

•

en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes)

•

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

•

en:plasmalogen deficiency

•

en:rheumatoid factor positive (finding)

•

en:increased il1b increased soluble il2r

•

en:serum iron normal

•

en:mitochondrial malic enzyme reduced

•

en:methemoglobin concentration 12 to 19%

•

en:increased urinary 2-ketoglutarate (variable)

•

en:increased prv-1 (162860) mrna

•

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

•

en:hypoproteinemia (in 1 patient)

•

en:hepatic gamma-cystathionase deficiency

•

en:decreased ubiquinone-10

•

en:decreased serum leptin

•

en:blunted cortisol response to adrenocorticotropic hormone (acth)

•

en:high sister chromatid exchange (sce) rate

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:increased serum alpha-mannosidase

•

en:increased pyruvate in serum and csf

•

en:increased creatine kinase, mild to moderate

•

en:high newborn serum levels of immunoreactive trypsinogen

•

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

•

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

•

en:elevated serum phosphorus

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:cerebrospinal fluid oligoclonal bands

•

en:cd4/cd8 ratio decreased

•

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

•

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

•

en:increased urinary catecholamines

•

en:decreased sulfite oxidase activity in fibroblasts

•

en:normal 46,xy karyotype

•

en:glycoamino aciduria

•

en:platelet aggregation decreased

•

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

•

en:march myoglobinuria

•

en:hyponatremic dehydration, rarely

•

en:variably increased serum creatine kinase

•

en:hypokalemia during periodic paralysis (most patients)

•

en:mild hyperammonemia

•

en:glucose-6-phosphate deficiency

•

en:elevated il6

•

en:electrolyturia (1 patient)

•

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

•

en:decreased activity of coenzyme q10-dependent respiratory chain complexes

•

en:absent or severely reduced levels of serum immunoglobulins

•

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

•

en:normal to elevated total plasma carnitine

•

en:serum creatine kinase may be normal or elevated

•

en:secondary decrease of plasma free carnitine

•

en:pseudohypertriglyceridemia in adult form

•

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

•

en:increased urinary excretion of coproporphyrin i

•

en:increased succinylaminoimidazole carboxamide ribotide (saicar)

•

en:increased serum total cholesterol

•

en:deficiency of laminin in basement membranes

•

en:absence of chylomicrons in lymph and plasma

•

en:decreased mitochondrial complex iii activity seen in muscle

•

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

•

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

•

en:decreased nasal nitric oxide

•

en:normal urinary pterins

•

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

•

en:serum gastrin increased

•

en:persistent ebv viremia

•

en:organic aciduria

•

en:tyrosine iodination defect

•

en:normal concentration of parathyroid hormone

•

en:increased urinary methylcitrate

•

en:hyposialylation of o-linked serum glycans

•

en:fibroblasts are small and rounded with prominent nucleoli

•

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

•

en:widespread interstitial fibrosis (visceral organs)

•

en:abnormal liver enzymes (in some patients)

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased plasma lpl levels (in some patients)

•

en:elevated serum parathyroid hormone (pth) level

•

en:fasting hyperinsulinemia

•

en:increased erythropoietin

•

en:increased soluble il2 receptor

•

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

•

en:patient cells have increased levels of lmnb1 mrna and protein

•

en:abnormal urinary organic acids

•

en:acute hyperammonemia

•

en:increased creatine kinase (ck)

•

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

•

en:low or absent luteinizing hormone (lh)

•

en:increased urinary excretion of l-xylulose

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:t-cell deficit

•

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

•

en:decreased sulfite oxidase activity

•

en:decreased serum iga

•

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

•

en:antiphospholipid antibody

•

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

•

en:abnormal igfr1 function

•

en:absent tyrosinase activity

•

en:antiribonuclear protein positive

•

en:galactosemia

•

en:hyperprolinemia (5-10 times normal)

•

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

•

en:increased 18-oxocortisol

•

en:low leukocyte alkaline phosphatase activity

•

en:neutral hyperaminoaciduria

•

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

•

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

•

en:tyrosine loss

•

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

•

en:abnormal response to human chorionic gonadotropin indicates decreased testosterone

•

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

•

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

•

en:isochromosome often missing in lymphocyte

•

en:spongy degeneration of brain on histology

•

en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

•

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

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:elevated 8(9)-cholestenol

•

en:decreased serum bun

•

en:increased urinary cyclic amp (camp) in response to ddavp administration

•

en:increased serum pyruvate, mild

•

en:increased serum thrombopoietin may occur

•

en:increased serum vitamin b12

•

en:increased urinary carnitine

•

en:increased urinary glycosphingolipids, particularly globotriaosylceramide

•

en:increased urinary dihydropyrimidines

•

en:low-normal igm

•

en:indirect bilirubin increased

•

en:intermittent increase of urinary ethylmalonic acid

•

en:lactic acidemia (2p21del)

•

en:increased serum acylcarnitines

•

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

•

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

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:increased plasma creatine

•

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

•

en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum

•

en:increased di- and asialo-transferrin

•

en:increased csf and plasma ghb

•

en:increased 18-hydroxycortisol

•

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

•

en:impaired oxidation of pyruvate

•

en:impaired n-glycosylation

•

•

en:hypoglycosylation of plasma glycoproteins

•

en:hypogammaglobulinemia

•

en:low growth hormone levels

•

en:low absolute lymphocyte count

•

en:normocalcemia

•

en:low or absent adrenocorticotropic hormone (acth) in some patients

•

en:normal sweat chloride (3 of 3 patients)

•

en:serum acid phosphatase normal

•

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

•

en:reduced bending capacity of cilia

•

en:protein urine absent

•

en:presence of vacuoles on muscle biopsy

•

en:positive kveim-siltzbach skin test

•

en:platelet function test normal

•

en:phosphaturia (in some)

•

en:no increase of muscle lactate with ischemic exercise testing

•

en:no evidence of intrauterine infection in mother or newborn

•

en:no chromosome breakage

•

en:hypernatriuria

•

en:normal transferrin saturation

•

en:normal sedimentation rate

•

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

•

en:normal red cell counts

•

en:normal or mildly decreased arylsulfatase a activity

•

en:normal or decreased serum potassium

•

en:normal lysosomal hydrolases

•

en:mild hypertriglyceridemia

•

en:mildly elevated hepatic enzymes

•

en:methemoglobinemia

•

en:metabolic acidosis

•

en:median mean platelet volume (mpv) 20fl

•

en:marked elevation of erythrocyte sedimentation rate

•

en:low urinary cyclic amp response to pth administration

•

en:low serum levels of branched-chain amino acids

•

en:low serum cortisol

•

en:hyperthreoninuria

•

en:echocardiogram abnormal

•

en:hyperlipoproteinemia type iib

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:decreased long-chain fatty acid oxidation

•

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

•

en:decreased levels of certain coagulation factors

•

en:decreased galactokinase activity

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins

•

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

•

en:decreased beta-glucosidase protein and activity

•

en:decreased activity of the pdh phosphatase

•

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

•

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

•

en:d-2-hydroxyglutaric aciduria

•

en:creatine decreased

•

en:decreased mitochondrial respiratory chain complex (2p21del)

•

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

•

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

•

en:cd4+/cd8+ ratio is reversed

•

en:carnitine deficiency

•

en:bilirubin conjugated increased

•

en:azoospermia/oligospermia (present at diagnosis)

•

en:anti-ds dna antibody

•

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

•

en:absence of outer dynein arms

•

en:abnormal nuclear morphology

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:abnormal dystrophin on muscle biopsy

•

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

•

en:decreased methylcobalamin (mecbl)

•

en:decreased nasal nitric oxide (in some patients)

•

en:hyperglycinemia

•

en:elevated crp

•

en:hypercalciuria (in some patients)

•

en:hyperbilirubinemia

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:high sweat electrolyte

•

en:high ornithine

•

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

•

en:fragmentation of the mitochondrial network

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

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

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated serum iron

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma and urine succinylacetone

•

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

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:serum iron raised

•

en:dyskinetic ciliary motility

•

en:disorganized growth plate cartilage

•

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

•

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

•

en:decreased von willebrand factor

•

en:decreased urinary sulfate

•

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

•

en:decreased serum thyroid-stimulating hormone (tsh)

•

en:decreased serum factor i (atypical hus)

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased plasma gonadotrophin

•

en:decreased plasma and urinary guanidinoacetate (gaa)

•

en:serum creatine kinase may be increased

•

en:defect in n- and o-glycosylation

•

en:serum phosphate normal

•

en:increased urinary isobutyryl glycine

•

en:lysyl hydroxylase deficiency

•

en:low plasma arginine

•

en:low or absent adrenocorticotropic hormone (acth)

•

en:leukocytosis

•

en:large spermatozoa

•

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

•

en:intracellular granular material on ultrastructural analysis

•

en:intermittent ethylmalonic aciduria

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary sulfatide excretion

•

en:increased urinary succinic acid

•

en:increased urinary malic acid

•

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

•

en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes

•

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

•

en:increased sodium-potassium pump activity

•

en:increased serum pyruvate in acute stage

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum gm-csf

•

en:increased serum citrulline (group b)

•

en:increased serum ammonia (group b)

•

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

•

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

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

en:increased plasma branched-chain fatty acids

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:increased ige level

•

en:medium chain dicarboxylic aciduria

•

en:mildly increased serum lactate

•

en:increased csf threonine

•

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

•

en:variable hyperlipidemia

•

en:serum prolactin decreased

•

en:undetectable plasma dbh activity

•

en:tryptophanuria

•

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

•

en:slightly increased serum alkaline phosphatase may occur

•

en:serum triglycerides normal

•

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

•

en:reduced erythrocyte purine nucleoside phosphorylase activity

•

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

•

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

•

en:prolonged activated partial thromboplastin time (aptt)

•

en:primary immunoglobulin-related amyloidosis (al)

•

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

•

en:mild to moderate hyperammonemia

•

en:partial deficiency of factor xii(c)

•

en:parathyroid hormone (pth) absent to low

•

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

•

en:normal urinary cyclic amp response to pth administration

•

en:normal transferrin isoelectric profile

•

en:normal serum lipoprotein levels

•

en:normal serum 1,25-dihydroxyvitamin d3

•

en:normal or mildly reduced sphingomyelinase activity

•

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

•

en:normal male karyotype (46,xy)

•

en:normal axonal flare response after intradermal histamine injection

•

en:neutrophilia, both basal and during infections

•

en:moderately decreased to normal phk activity in skeletal muscle

•

en:increased disialotransferrin and asialotransferrin levels

•

en:uric acid normal

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:creatine kinase levels may normalize with disease progression

•

en:decreased renal calcium excretion

•

en:decreased mucosal alkaline phosphatase

•

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

•

en:decreased levels of plasma factor viii

•

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

•

en:decreased glycerol kinase activity

•

en:decreased erythrocyte plasmalogen

•

en:decreased csf ferritin despite normal serum ferritin levels

•

en:decreased cortisol-binding globulin

•

en:decreased asparagine levels (in some patients)

•

en:decreased activity of triosephosphate isomerase

•

en:decreased activity of thiopurine s-methyltransferase

•

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

•

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

•

en:decreased serum acth

•

en:cholesterol normal

•

en:blood pyruvic acid increased

•

en:atrial abnormalities on electrocardiogram

•

en:aspartylglycosaminuria

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

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

•

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

•

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

•

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

•

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

•

en:structural abnormalities seen on chromosome analysis

•

en:impaired platelet aggregation

•

en:shortened telomeres (classic feature, nola3 patient)

•

en:decreased serum 18-ohb

•

en:skewed x-inactivation in females

•

en:decreased serum cholesterol (in some)

•

en:globulin gamma serum plasma increased result

•

en:decreased testosterone level

•

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

•

en:hypocalciuria

•

en:hyperornithinemia

•

en:hypermagnesiuria

•

en:hyperglycolic aciduria

•

en:hyperglutaminemia

•

en:hypercholesterolemia (disorder)

•

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

•

en:high nonceruloplasmin-bound serum copper

•

en:heteroplasmic partial duplication of mtdna

•

en:granular osmiophilic deposits (grod) in cells

•

en:impaired creatine uptake in fibroblasts

•

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

•

en:elevated long chain fatty acids

•

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

•

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

•

en:defective dna repair

•

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

•

en:elevated fasting triglycerides

•

en:immunoglobulin antibodies present

•

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

•

en:elevated serum transaminase levels

•

en:elevated sweat chloride (some)

•

en:elevated plasma stigmasterol

•

en:elevated prothrombin time

•

en:elevated serum iron and iron binding capacity

•

en:karyotype analysis normal finding

•

en:irregularly shaped sperm heads

•

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

•

en:increased urinary uracil

•

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

•

en:increased urinary dopamine

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:lactate dehydrogenase increased

•

en:increased triglycerides (less common)

•

en:increased serum prostaglandin e2

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased plasma homogentisic acid (hga)

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

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

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased il-6

•

en:increased csf interferon alpha

•

en:increased chromosomal breakage

•

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

•

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

•

en:impairment of urinary concentration

•

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

•

en:immediate (type i) skin test reactivity

•

en:iga antiendomysial antibodies (ema)

•

en:lower total cholesterol

•

en:i-cell disease

•

en:increased ck-mb

•

en:normal to mildly increased serum creatine kinase

•

en:low maximal oxygen uptake on exercise testing

•

en:occasionally mild elevation of csf protein

•

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

•

en:hypocalcemia (male)

•

en:serum lactate may be increased during encephalopathic exacerbations

•

en:serum creatinine raised

•

en:serum complement decreased

•

en:serum bicarbonate increased

•

en:reduced erythrocyte gs activity

•

en:reduced cytosolic superoxide dismutase-1 (sod1)

•

en:phosphorylase kinase normal in muscle

•

en:partial deficiency of factor xi (less common)

•

en:parathyroid hormone level increased

•

en:osteocalcin increased

•

en:oestradiol decreased

•

en:no hematuria

•

en:may have increased serum parathyroid hormone (pth)

•

en:no elevation of free fatty acids

•

en:no cartilage staining with toluidine blue

•

en:normal parathyroid hormone (female)

•

en:normal lysyl oxidase activity

•

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

•

en:normal constitutional karyotype

•

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

•

en:neutropenia (in 1 patient)

•

en:mitochondrial deletions

•

en:mildly prolonged bleeding time 10-12 minutes

•

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

•

en:microtubule disorganization in some cilia

•

en:methylmalonic acidemia

•

en:hypoglycemia, fasting

•

en:decreased uros activity (1 patient)

•

en:hyperphosphatemia, transient

•

en:decreased beta-galactosidase activity

•

en:decreased phytanic acid oxidase activity

•

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

•

en:decreased lipid-linked oligosaccharides (llo)

•

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

•

en:decreased hexokinase activity in red blood cells

•

en:decreased fbp1 enzyme activity

•

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

•

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

•

en:decreased csf homovanillic acid (hva)

•

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

•

en:decreased copper, iron, zinc

•

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

•

en:decreased activity of phosphoglycerate kinase 1

•

en:decreased serum insulin-like growth factor-1 (igf1, 147440)

•

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

•

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

•

en:bile contains cholesterol crystals

•

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

•

en:amylo-1,6-glucosidase deficiency

•

en:aminoaciduria (in some patients)

•

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

•

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

•

en:abnormal serum liver enzyme levels

•

en:abnormal liver function tests (less common)

•

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

•

en:abnormal cardiolipin subspecies composition

•

en:variable defects of inner dynein arms

•

en:decreased serum cobalamin

•

en:decreased serum rt3

•

en:homocysteinemia

•

en:elevated plasma propionylcarnitine

•

en:high serum guanosine levels

•

en:hereditary xanthinuria

•

en:heparan sulfate excretion in urine

•

en:hawkinsinuria

•

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

•

en:glycogen storage disease type vi

•

en:glycogen accumulation in both liver and muscle

•

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

•

en:elevated urinary mevalonic acid

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:elevated propionate

•

en:elevated plasma ornithine (~10-fold)

•

en:decreased telomere length in lymphocytes

•

en:elevated plasma insulin

•

en:elevated free carnitine

•

en:elevated androstenedione

•

en:elevated 8-dehydrocholesterol

•

en:elevated 3-hydroxypropionic acid

•

en:elevated 17-hydroxyprogesterone

•

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

•

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

•

•

en:deficient fibroblast aicar-tf activity

•

en:deficiency or absence of p91-phox protein

•

en:deficiency or absence of p22-phox protein

•

en:defect in mitochondrial and peroxisomal fission

•

en:urinary excretion of mucopolysaccharides

•

en:increased serum, urinary, and csf lysine

•

en:4-hydroxyphenylactic aciduria

•

en:low serum calcium

•

en:normal pyridinoline excretion in urine

•

en:normal plasma total homocysteine

•

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

•

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

•

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

•

en:multiple tissue biopsies show lysosomal storage disease

•

en:mucopolysaccharidosis type iiid

•

en:molybdenum cofactor deficiency

•

en:mild elevation of triglycerides

•

en:mildly elevated acth

•

en:metachromasia of white blood cells and fibroblasts

•

en:low serum igg and iga

•

en:low serum alpha-fetoprotein (recessive)

•

en:normal serum phytanic and pristanic acid

•

en:low or undetectable c-peptide

•

en:lactic acidosis

•

en:ketonuria (1 patient)

•

en:interstitial or terminal deletion of 18q

•

en:increased urinary 2-methylbutyrylglycine

•

en:increased serum lipoproteins

•

en:increased serum lactate, particularly after exercise

•

en:increased serum ige

•

en:increased serum creatine kinase in acute stage

•

en:increased serum beta-hexosaminidase

•

en:increased serum and csf glycine

•

en:increased serum alanine

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:normal serum creatine kinase

•

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

•

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

•

en:serum creatine kinase 20-70 times normal

•

en:abnormal karyotype in 3 patients involving distal 6p

•

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

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

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

•

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

•

en:tumor may secrete vasoactive intestinal peptide (vip)

•

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

•

en:severe amyloid angiopathy

•

en:severely decreased antigen levels of vwf and factor viii

•

en:serum testosterone level normal

•

en:serum prolactin increased

•

en:serum aldosterone elevated

•

en:no evidence of common prenatal infections

•

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

•

en:saposin a deficiency (finding)

•

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

•

en:reduced igg levels, particularly igg2 subclass

•

•

en:reduced beating amplitudes in cilia

•

en:proteinuria in those with cystic kidneys

•

•

en:positive antinuclear antibody test

•

en:polymorphonuclear leukocytosis, episodic

•

en:pipecolic acid accumulation.

•

en:occasional hypomagnesemia

•

en:no ketonuria

•

en:increased plasma phospholipids

•

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

•

en:increased gamma-interferon

•

en:decreased activity of mitochondrial complex i

•

en:decreased platelet derived growth factor

•

en:decreased plasma total and free carnitine

•

en:decreased plasmalogens

•

en:decreased phk activity in liver

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

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

•

en:decreased mitochondrial nadp(h)

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

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

•

en:decreased factor xi

•

en:decreased dermal hydroxylysine content

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:decreased serum androgens

•

en:decreased-absent intestinal mucosa lactase activity

•

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

•

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

•

en:chromosomal instability

•

en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

•

en:bilirubin may or may not be increased

•

en:bicarbonaturia

•

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

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:abnormal secretin test

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal liver enzymes (1 patient)

•

en:increased free cyanocobalamin in fibroblasts

•

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

•

en:absent axonal flare response to intradermal histamine injection

•

en:decreased serum complement factor h

•

en:glycosuria (less common)

•

en:inappropriately low urine osmolality

•

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

•

en:igg, decreased

•

en:hyperlysinemia

•

en:homocysteinemia (in some patients)

•

en:high sweat sodium and chloride

•

en:high ebv viral load

•

en:hereditary fructose intolerance

•

en:hepatic argininosuccinate synthetase deficiency

•

en:hair bulb tyrosinase present

•

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

•

en:gm2-ganglioside accumulation

•

en:hyperarginemia

•

en:generalized aminoaciduria

•

en:elevated gamma-glutamyltransferase

•

en:decreased serum vitamin a

•

en:decreased switched memory b cells

•

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

•

en:diminished lymphocyte response to phytohemaglutinin

•

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

•

en:elevated biopterin in csf

•

en:increased cholesterol

•

en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities

•

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

•

en:elevated plasma phytanic acid

•

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

•

en:elevated urinary epinephrine

•

en:exercise-induced myoglobinuria

•

en:monoclonal gammopathy

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

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

•

en:increased serum parathyroid hormone (pth)

•

en:nonketotic hypoglycemia

•

en:normal igm levels

•

en:normal plasma renin

•

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

•

en:normal serum complement levels

•

en:normal serum liver enzymes

•

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

•

en:markedly reduced iga levels

•

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

•

en:methylmalonic aciduria, mild

•

en:lysosomal-like storage vacuoles in various tissues

•

en:low to normal plasma methionine

•

en:low serum magnesium

•

en:low or undetectable insulin

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:increased urinary sulfatides

•

en:increased urinary prostaglandin e2

•

en:increased urinary hypoxanthine

•

en:normal to increased plasma threonine

•

en:increased serum s-adenosylmethionine

•

en:low serum ceruloplasmin

•

en:some cilia show central complex and radial spoke defects

•

en:normal to slightly high alkaline phosphatase

•

en:thyroid peroxidase defect

•

en:abnormal liver function tests (in some patients)

•

en:increased serum glycine, leucine, isoleucine, valine

•

en:abnormal liver enzymes (rare)

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:abnormal eeg in 25% hospitalized patients

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:3-methylglutaconic aciduria

•

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

•

en:tyrosinemia (transient, resolves in infancy)

•

en:type i, classic, decreased antithrombin iii levels

•

en:tay-sachs disease

•

en:no increased sensitivity to oxidative species

•

en:sialylation defects

•

en:routine liver function tests normal

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:prolonged activated partial prothrombin time (appt)

•

en:positive urine dnph screening test

•

en:polyploid sperm heads

•

en:pipecolic acidemia

•

en:phospholipid antibody positive

•

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

•

en:panhypogammaglobulinemia

•

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

•

en:increased serum lysine (group b)

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:increased serum fgf23

•

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

•

en:decreased t cells

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased serum igm

•

en:decreased serum ceruloplasmin

•

en:decreased serum and muscle coenzyme q

•

en:decreased plasma arginine

•

en:decreased or normal plasma insulin

•

en:decreased nk cells (in some patients)

•

en:decreased hepatic gaba transaminase activity

•

en:decreased circulating cortisol level

•

en:decreased cerebrospinal fluid folic acid

•

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

•

en:dermatan sulfate excretion in urine

•

en:creatine phosphokinase serum increased

•

en:b lymphocytopenia

•

en:at least 2 complementation groups

•

en:alpha-fetoprotein normal

•

•

en:agammaglobulinemia

•

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

•

en:abnormal urinary compounds

•

en:abnormal liver enzymes during illness

•

en:abnormal cholesterol homeostasis

•

en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes

•

en:deficiency of fat-soluble vitamins

•

en:dimethylglycine dehydrogenase (dmgdh) deficiency

•

en:increased serum creatine kinase, mild

•

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

•

en:increased serum c-reactive protein, episodic

•

en:increased serum arylsulfatase a.

•

en:increased renal tubular phosphate reabsorption

•

en:increased pristanic acid

•

en:increased plasma long-chain acylcarnitines

•

en:increased fas ligand

•

en:increased bone-specific alkaline phosphatase

•

en:inappropriately normal or increased plasma hepcidin

•

en:hyponatremia in infancy

•

en:hyperphenylalaninemia

•

en:hypercholesterolemia

•

en:homocystinemia

•

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

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:hereditary factor x deficiency

•

en:hemizygous deletion at 4p16.3

•

en:foam cells in bone marrow and renal glomeruli

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated urine ceramide levels

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:elevated serum lactate

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:elevated ferritin l subunit

•

en:elevated 7-dehydrocholesterol

•

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

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

en:alpha ketoadipic aciduria

•

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

•

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

•

en:low serum acth

•

en:low plasma tryptophan (inflammatory type b)

•

en:low plasma methionine

•

en:low or absent iga levels

•

en:low level of c4 and c2

•

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

•

en:low csf creatine

•

en:increased urinary oxylate

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary l-glycerate

•

en:increased urinary 3-oh-isovaleric acid ketonuria

•

en:nephrotic syndrome

•

en:increased uric acid with exercise

•

en:increased tissue levels of triglycerides

•

en:increased serum unconjugated bilirubin

•

en:increased serum triglycerides (in some patients)

•

en:increased serum creatine kinase (patient a)

•

en:increased plasma progastrin

•

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

•

en:increased lactate in spinal fluid

•

en:increased interferon-alpha signal

•

en:increased excretion of urobilinogen

•

en:increased csf lactate

•

en:microdeletion 22q11.2

•

en:normal csf 5-hiaa

•

en:increased biliverdin in bodily fluids

•

en:secondary decreases in complex i and iv activity

•

en:myopathy with exercise intolerance, swedish type

•

en:very low leptin level

•

en:variable respiratory chain enzyme deficiency

•

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

•

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

•

en:transferrin saturation increased

•

en:thyroid dyshormonogenesis 5

•

en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine

•

en:serum transferrin glycosylation is normal

•

en:serum ferritin hyperglycosylation

•

en:aminoaciduria, intermittent

•

en:round, yellow-brown dha urine crystals

•

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

•

en:reduced erythrocyte glucose/hexose transport

•

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

•

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

•

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

•

en:plasma protein c deficiency

•

en:no dicarboxylic aciduria

•

en:no c8 antigen detected

•

en:normal sweat electrolytes

•

en:normal serum folate levels

•

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

•

en:normal exocrine pancreatic function

•

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

•

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

•

en:iiga and igg antigliadin antibodies (aga)

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated plasma acth

•

en:elevated leukotriene e(4)

•

en:elevated dihydrobiopterin in csf

•

en:elevated 3-methylcitric acid

•

en:electrocardiogram abnormal

•

en:dermatan and heparan sulfate excretion in urine

•

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

•

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

•

en:decreased tissue and serum alkaline phosphatase

•

en:decreased plasma and urinary ornithine

•

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

•

en:elevated progesterone

•

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

•

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

•

en:decreased activity of dihydrofolate reductase

•

en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase

•

en:complex organic aciduria

•

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

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

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

•

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

•

en:axonemes show normal structure

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:elevated plasma campesterol

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:elevated pyruvate (in most patients)

•

en:hydrocortisone decreased

•

en:hypoglycemia

•

en:elevated urinary 3-methylglutarate

•

en:hypogammaglobulinemia, profound

•

en:hypofibrinogenemia

•

en:hypocalcemia (64% of adults)

•

en:hyperthreoninemia

•

en:hyperoxaluria

•

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

•

en:hyperkalemia (6.4 +/- 0.7 mm)

•

en:hypercholesterolemia (reported in 2 patients)

•

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

•

en:hypertryptophanemia

•

en:homocitrullinuria

•

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

•

en:heparin cofactor ii deficiency (disorder)

•

en:factor vii deficiency

•

en:fasting chylomicronemia

•

en:extremely low creatine excretion

•

en:elevated urine unsulfated chondroitin sulfate

•

en:fibroblasts show decreased peroxisomes arranged in rows

•

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

•

en:glucosidase i deficiency in liver and fibroblasts

•

en:glutaric acidemia type 1

•

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

•

en:hemoglobin f increased

•

en:hla-dqw6 association (dqb1*0602)

•

en:homozygous 122kb deletion 11p15-p14

•

en:hypercalciuria (in childhood)

•

en:hyperkalemia

•

en:hypoalbuminemia

•

•

en:impaired mitochondrial translation

•

en:impaired o-glycosylation

•

en:increased plasma pipecolic acid

•

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

•

en:increased csf protein

•

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

•

en:increased igm level

•

en:increased intracellular fmrp mrna

•

en:increased serum bilirubin (in some patients)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum glycerol

•

•

en:increased serum lactate in acute stage

•

en:high plasma asparagine

•

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

•

en:glycogen storage disease type vii

•

en:decreased whole blood serotonin

•

en:increased serum methionine (reported in 2 cases)

•

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

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

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

•

en:decreased levels of cpt2 protein

•

en:decreased or absent udp-glucuronyl-transferase activity

•

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

•

en:decreased serum haptoglobin

•

en:deficient efflux of intracellular cholesterol

•

en:fibroblasts show increased sensitivity to apoptosis

•

en:disseminated intravascular coagulation

•

en:duplication or deletion at 11p15.5

•

en:elevated hepatic transaminases

•

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

•

en:elevated plasma alloisoleucine

•

en:elevated plasma galactose (galactosemia)

•

en:elevated plasma levels of lp(a)

•

en:elevated total bilirubin

•

en:elevated urinary 2-ethylhydracrylate

•

en:increased serum manganese

•

en:normal to mildly increased mucopolysacchariduria

•

en:increased serum s-adenosylhomocysteine

•

en:reduced unsaturated serum cobalamin binding capacity

•

en:normal renin level

•

en:normal to increased plasma glycine

•

en:partial deficiency of factor xiii (less common)

•

en:patient cells show abnormal mitochondrial morphology

•

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

•

en:premature separation of centromeric heterochromatin

•

•

en:raised c-reactive protein

•

en:serum cholesterol low or normal

•

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

•

en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions

•

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

•

en:translocation of chromosomes 9 and 13

•

en:type 1 collagen overmodification

•

•

en:urinary excretion of 2-ethyl-hexanedioic acid

•

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

•

en:vacuolated lymphocytes

•

en:vitamin k deficiency

•

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

•

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

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:isovaleric acidemia

•

en:increased urinary and serum glycine

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:increased urinary excretion of camp

•

en:increased urinary fumaric acid

•

en:increased urinary hga

•

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

•

en:increased urine vanillactic acid (vla)

•

en:iron binding capacity total increased

•

en:lack of lysosomal inclusions in visceral organs

•

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

•

en:lactate high

•

en:low-molecular-weight proteinuria

•

en:low 25-oh-vitamin d level

•

en:low free carnitine

•

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

•

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

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:mildly elevated urinary mevalonic acid

•

en:monomeric igm

•

en:decreased csf serine

◀

en:disproportionate

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846769 • caches: c1=8 c2=1003 c3=1

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