Diko : en:decreased activity of mitochondrial complex i

(id=6846428)

en:decreased activity of mitochondrial complex i

Catégories

Nom

Informations lexicales

Langue:anglais

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umls:C2677650

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Associations d'idées

1000

en:velopharyngeal muscle weakness

•

en:patchy muscle fiber degeneration

•

en:no mucopolysacchariduria

•

en:normal serum parathyroid hormone (pth)

•

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

•

en:myopathic changes seen muscle biopsy

•

en:muscle atrophy (in some patients)

•

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

•

en:increased serum ferritin (in some patients)

•

en:increased serum alkaline phosphatase (in some patients)

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased hepatocellular carcinoma risk

•

en:hypokalemia during periodic paralysis (most patients)

•

en:hypernatremia

•

en:hyperglycolic aciduria

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:elevated ast and ldh, especially infantile-onset

•

en:decreased or absent pts activity

•

en:decreased nk cells (in some patients)

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased beta-glucosidase protein and activity

•

en:appropriately increased serum 1,25-dihydroxyvitamin d3

•

en:abnormal liver function test

•

en:symptoms are progressive for a few years, and then become stationary

•

en:subsarcolemmal mitochondrial accumulation

•

en:serum osmolality decreased

•

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

•

en:mild elevation of transaminases

•

en:heavy iron deposition in most hepatocytes

•

en:elevated plasma cholestanol

•

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

•

en:atrophy of shins

•

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

•

en:z-disk degeneration

•

en:severely impaired ciliary motility

•

en:serum triglycerides normal

•

en:serum cortisol decreased

•

en:scapular muscle atrophy

•

en:ragged-red muscle fibers

•

en:positive urine dnph screening test

•

en:muscle biopsy shows myofibrillar disruption

•

en:mildly increased serum lactate

•

en:mildly decreased cytochrome c oxidase activity

•

en:low serum alpha-fetoprotein (recessive)

•

en:elevated serum levels of 2-prime deoxyadenosine

•

en:distal muscle weakness and atrophy, upper and lower limbs

•

en:citrullinemia

•

en:cholelithiasis

•

en:biopsy shows dystrophic changes

•

en:acylglycinuria

•

en:absent 7-dehydrocholesterol

•

en:abnormal transaminases (1 patient)

•

en:tubular aggregates mainly in type 2 fibers and are subsarcolemmal or intermyofibrillar and stain for nadh-tetrazolium reductase

•

en:quadriceps weakness

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:paralysis of the lower limbs (later)

•

en:normal transferrin saturation

•

en:muscle biopsy shows abnormal mitochondria

•

en:mildly elevated hepatic enzymes

•

en:increased total bilirubin may occur

•

en:increased serum transferrin

•

en:hypercholesterolemia

•

en:giant granules in muscle cells

•

en:galactosylation defects

•

en:fibrosis

•

en:fiber-type grouping pattern

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:elevated sepiapterin in csf

•

en:defective mitochondrial respiratory enzyme activity

•

en:congenital fiber-type disproportion

•

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

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:serum pristanic acid increased

•

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

•

en:reduced ferrochelatase activity

•

en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase

•

en:no muscle weakness

•

en:normal csf neurotransmitters

•

en:muscle fiber splitting (in some patients)

•

en:may have proximal muscle weakness later in the disease

•

en:lymphangitis, episodic

•

en:lactic acidosis

•

en:inability to run

•

en:hypofibrinogenemia

•

en:hypocholesterolemia

•

en:hypocalciuria

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hepatomegaly (in some)

•

en:fibrosis, mild (1 patient)

•

en:ethylmalonic aciduria

•

en:elevated plasma alloisoleucine

•

en:decreased hdl cholesterol

•

en:cytochemical and em muscle studies show large, bizarre mitochondria in striated muscle

•

en:3-methylglutaric aciduria (3-mga)

•

en:serum creatinine raised

•

en:ragged red fibers (in some patients)

•

en:plasma protein c deficiency

•

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

•

en:normal lysl hydroxylase activity

•

en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes

•

en:mitochondrial myopathy

•

en:low signal intensity on t1- and t2-weighted abdominal mri

•

en:iodine depletion

•

en:increased urinary l-glycerate

•

en:increased ige level

•

en:increased histidine in blood, urine, and csf

•

en:hypercholesterolemia (10%)

•

en:high sweat electrolyte

•

en:hematuria (less common)

•

en:fibrosis (1 patient)

•

en:elevated plasma ammonia

•

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

•

en:elevated circulating parathyroid hormone (pth) level

•

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

•

en:decreased activity of 3-methylglutaconyl-coa hydratase

•

en:cytoplasmic inclusion bodies (finding)

•

en:bridging fibrosis

•

en:biotinidase deficiency

•

en:absence of hepatic udp-glucuronyl-transferase

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:subcutaneous lipomatous tissue

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:predominance of oxidative fibers

•

en:phytanic acid accumulation

•

en:normal iga levels

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:myoglobinuria

•

en:mosaic tetrasomy 12p in skin fibroblasts

•

en:micronodular cirrhosis (less common)

•

en:merosin-positive biopsy

•

en:loss of adipose tissue occurs around puberty

•

en:increased urinary tiglylglycine

•

en:increased urinary sulfite

•

en:increased urinary 3-methylcrotonylglycine

•

en:increased serum lactate, particularly after exercise

•

en:increased serum gamma-ggt (231950)

•

en:increased serum, urinary, and csf lysine

•

en:inappropriately increased urine osmolality

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hyperlipoproteinemia type i

•

en:elevated progesterone

•

en:decreased urinary excretion of uromodulin

•

en:decreased levels of the e2 subunit protein

•

en:cholestasis (less common)

•

en:bilateral facial weakness (congenital form)

•

en:anti-iga antibodies commonly present

•

en:aggregates contain granular electron-dense material

•

en:z-disks with abnormal homogeneous material

•

en:xanthine nephrolithiasis

•

en:vacuoles predominantly in type 2 fibers seen on muscle biopsy

•

en:soft tissue or tendinous calcinosis may occur

•

en:secondary myopathic features

•

en:portal vein thrombosis

•

en:normal phytanic acid

•

en:nemaline bodies occur in type 1 fibers

•

en:muscular dystrophy (in some patients)

•

en:muscle weakness, episodic

•

en:low or absent thyrotropin (tsh)

•

en:low absolute lymphocyte count

•

en:increased urinary catecholamines (with pheochromocytoma)

•

en:increased serum uric acid

•

en:increased fibroblast free sialic acid

•

en:impaired response to gm-csf

•

en:hyperoxalaemia

•

en:hypercalciuria (in some patients)

•

en:fatty infiltration

•

en:elevated levels of vitamin b12

•

en:distal muscle weakness in lower limbs, severe

•

en:deficiency of fructokinase

•

en:cryptogenic cirrhosis

•

en:cholesterol low

•

en:cholangitis

•

en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs

•

en:tubulofilamentous inclusions

•

en:pelvic girdle weakness

•

en:neck flexor weakness

•

en:muscle hypertrophy

•

en:mri of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:micronodular cirrhosis

•

en:markedly increased serum creatine kinase

•

en:liver dysfunction (in some patients)

•

en:large lipid droplets

•

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

•

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

•

en:increased serum butyryl carnitine

•

en:increased plasma proinsulin

•

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

•

en:elevated erythrocyte aicar (zmp)

•

en:elevated alkaline phosphatase (in one patient)

•

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

•

en:cox-depleted fibers

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:virtually no active movement at birth (wws)

•

en:urine odor, maple syrup

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:tenderness of lower extremities

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:severe form shows absence of spontaneous activity at birth

•

en:normal alpha-glucosidase or acid maltase activity (gaa, 606800)

•

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

•

en:inflammatory cell infiltrate

•

en:increased variation in muscle fiber diameter

•

en:increased serum creatine kinase during episodes

•

en:increased il-8

•

en:hyporeflexia of lower limbs

•

en:hypoplasia of supraspinatus muscle

•

en:hypoglycemia, fasting

•

en:groups of atrophic fibers seen on muscle biopsy (type i fiber predominance)

•

en:gait disturbance

•

en:fluorescence of red blood cells by uv microscopy

•

en:ferritin decreased

•

en:exertional fatigue

•

en:elevated blood spot hydroxybutyryl carnitine

•

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

•

en:decreased activity of mitochondrial respiratory complexes

•

en:cranial muscles spared

•

en:'hanging' big toe

•

en:tubular aggregates in muscle fibers may occur

•

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

•

en:normal to slightly elevated plasma cholesterol

•

en:nonspecific portal inflammation shown on biopsy

•

en:myofibromatosis

•

en:muscle hematoma

•

en:liver fibrosis (in some patients)

•

en:little to absent aspartylglucosaminuria activity

•

en:increased urinary homovanillic acid (hva)

•

en:fiber type grouping

•

en:decreased udp-glcnac

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

en:cholesterol normal

•

en:albuminuria

•

en:acute hepatitis

•

en:absence of cd59 expression on red cells

•

en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio)

•

en:spongy degeneration of brain on histology

•

en:skeletal myopathy

•

en:prominent bile duct plates

•

en:premature exertional muscle weakness

•

en:obstructive liver disease

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:limb-girdle muscular dystrophy

•

en:increased serum pyruvate, mild

•

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

•

en:increased serum growth hormone levels

•

en:hyperbilirubinemia in those with liver failure

•

en:hepatic amyloidosis (systemic nonneuronopathic 107680.0016)

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:decreased coenzyme q10

•

en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:cholestasis (1 patient)

•

en:calf muscle weakness

•

en:biliary dysplasia (rare)

•

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

•

en:left hemiliver

•

en:thymic hormone decreased

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:normal sweat electrolytes

•

en:neonatal hypertonias

•

en:muscle weakness restricted to the upper limb

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased serum beta-hexosaminidase

•

en:increased interleukin 10

•

en:increased fibrosis

•

en:hyperuricemia

•

en:hyperlactemia

•

en:hereditary fructose intolerance

•

en:emg shows myotonic discharges in the absence of clinical myotonia

•

en:decreased cortisol-binding globulin

•

en:decreased acid sphingomyelinase activity

•

en:cells show increased sensitivity to ionizing radiation

•

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

•

en:weakness of all intrinsic hand muscles (later)

•

en:some cilia show abnormal beating patterns or immotility

•

en:relative muscle weakness, especially in pelvic girdle

•

en:organic aciduria, mild (in some patients)

•

en:normal b12

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers

•

en:muscle activity is electrically silent on emg

•

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

•

en:low cd4+ count

•

en:kypokalemia

•

en:increased visceral fat

•

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

•

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

•

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

•

en:increased endomysial fibrosis

•

en:hepatic cytolysis (in some patients)

•

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

•

en:distal limb muscle weakness and atrophy

•

en:antiphospholipid antibody

•

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

•

en:absence of outer dynein arms

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:serum testosterone level normal

•

en:serum folate low

•

en:plasmalogen deficiency

•

en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver

•

en:myotonia is most pronounced in the extremities

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:metachromatic leukodystrophy due to saposin b deficiency

•

en:macrovesicular steatosis (1 patient)

•

en:low or normal serum erythropoietin

•

en:low csf creatine

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased hepatic glycogen content

•

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

•

en:hypoproteinemia

•

en:hepatic lipase deficiency (disorder)

•

en:generalized neonatal hypotonia

•

en:exertional leg pain

•

en:decreased serum iron (in some patients)

•

en:decreased s-ado:saicar ratio

•

en:decreased glutamine in bodily fluids

•

en:cholesterol gallstones

•

en:areflexia due to muscle weakness

•

en:abnormal cholesterol homeostasis

•

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

•

en:weakness

•

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

•

en:skeletal muscle shows dystrophic changes

•

en:panhypogammaglobulinemia

•

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

•

en:myalgia (in some patients)

•

en:muscle weakness increases with age

•

en:muscle weakness and atrophy, distal

•

en:muscle fatigue

•

en:muscle biopsy shows type i fiber predominance

•

en:low to very low hdl cholesterol

•

en:lower limbs more often affected

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased transferrin saturation (>60%)

•

en:increased serum methionine

•

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

•

en:increased free erythrocyte protoporphyrin

•

en:increased acetoacetate: beta-hydroxybutyrate ratio (group b)

•

en:hypothenar muscle atrophy

•

en:heparan sulfate excretion in urine

•

en:generalized weakness (adult-onset)

•

en:emg shows myopathic pattern

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:decreased activity of complex i and complex iv

•

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

•

en:coarse metachromatic granules in white blood cells

•

en:axial hypotonia (in some patients)

•

en:leber optic atrophy and dystonia

•

en:right hemiliver

•

en:weak extraocular muscles

•

en:weakness of anterior compartment tibial muscles

•

en:variable hyperlipidemia

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:vacuolar myopathy may occur

•

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

•

en:urinary excretion of 3-hydroxyisovaleric acid, chronic

•

en:upper arm and pelvic muscle weakness and atrophy (later onset)

•

en:unresponsive to acth stimulation

•

en:umbilical cord bleeding

•

en:type 1 collagen overmodification

•

en:tsh decreased

•

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

•

en:transient neonatal hypoglycemia (2p21del)

•

en:transient eosinophilia in first decade

•

en:transferase deficiency galactosemia

•

en:transaminitis

•

en:thyroid hormones increased

•

en:t-lymphocytopenia

•

en:swelling of the extremities, episodic

•

en:subsarcolemmal mitochondrial aggregates

•

en:subsarcolemmal hyaline bodies in 25-30% type i fibers only

•

en:subacute progressive viral hepatitis

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:slightly elevated 24-hour mean plasma cortisol

•

en:skeletal muscle weakness

•

en:skeletal muscle biopsy shows enlarged mitochondria with abnormal cristae decreased mitochondrial complex i activity

•

en:serum mitochondrial autoantibodies

•

en:serum lactate is usually normal

•

en:serum copper decreased

•

en:serum carnitine deficiency

•

en:serum c-reactive protein may be increased

•

en:serum and csf lactate may be increased

•

en:secondary decrease of plasma free carnitine

•

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

•

en:routine liver function tests normal

•

en:ring fibers

•

en:rheumatoid factor negative

•

en:relative sparing of the rectus femoris

•

en:relatively preserved limb strength

•

en:reduced muscle tone but normal power

•

en:reduced aspartoacylase activity in cultured skin fibroblasts

•

en:rectus abdominis muscle separation

•

en:rare rupture of cysts

•

en:rare obstruction of hepatic venous outflow (ascites)

•

en:pseudohypertriglyceridemia in adult form

•

en:proximal lower limb muscle weakness, later (in some patients)

•

en:prolidase deficiency

•

en:polymorphonuclear leukocytosis, episodic

•

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

•

en:platelet count normal

•

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

•

en:oestradiol decreased

•

en:no staining for oxidative enzymes

•

en:no facial muscle involvement

•

en:normal serum 1,25-dihydroxyvitamin d3

•

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

•

en:normal or decreased serum potassium

•

en:normal liver histology

•

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

•

en:nerve conduction studies normal

•

en:myotonia is usually not seen

•

en:myopathy, mild

•

en:myofibrillar disintegration

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness, proximal and distal (predominant lower limb involvement)

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows grouped atrophy

•

en:muscle biopsy shows dystrophic features

•

en:muscle biopsy shows decreased postsynaptic areas of clefts and folds

•

en:muscle biopsy shows decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)

•

en:muscle atrophy later in the disease

•

en:muscle atrophy appears later in disease course

•

en:muscle atrophy, progressive

•

en:muscle aches, intermittent

•

en:mtdna deletions seen on muscle biopsy

•

en:motor developmental delay

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:median mean platelet volume (mpv) 12.5fl

•

en:marked hypobetalipoproteinemia

•

en:lysosomal-like storage vacuoles in various tissues

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:low total serum protein

•

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

•

en:low density lipoprotein increased

•

en:loss of subcutaneous adipose tissue in limbs

•

en:loss of lower-limb tendon reflexes

•

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

•

en:loose connective tissue

•

en:liver abnormalities, mild (1 patient)

•

en:lipid vacuoles in leukocytes (jordan bodies)

•

en:limb muscular atrophy

•

en:limb-girdle muscle weakness (2 families)

•

en:lack of facial subcutaneous fat

•

en:ketonuria, acute

•

en:keratan sulfaturia in some patients

•

en:karyotype analysis normal finding

•

en:jitter

•

en:isochromosome often missing in lymphocyte

•

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

•

en:iron overload (in some patients)

•

en:intracellular granular material on ultrastructural analysis

•

en:intermittent dicarbonic aciduria

•

en:inner and outer dynein arm defects, variable

•

en:infantile hypophosphatasia

•

en:increased urine porphyrins at times

•

en:increased urinary oligosaccharides

•

en:increased urinary lactate

•

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

•

en:increased urinary 2-alpha-ketoglutaric acid

•

en:increased urinary, plasma, and csf dihydrouracil

•

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

•

en:increased serum s-adenosylhomocysteine

•

en:increased serum gm-csf

•

en:increased serum creatine kinase (patient a)

•

en:increased serum and csf glycine

•

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

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased prv-1 (162860) mrna

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

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

•

en:increased lipid droplets and abnormal mitochondria

•

en:increased levels of carcinoembryonic antigen

•

en:increased internal nuclei

•

en:increased fat and fibrous tissue

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

en:increased echo intensity in affected muscles

•

en:increased csf lactate

•

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

•

en:increased connective tissue (in some patients)

•

en:increased chromosomal breakage

•

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

•

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

•

en:igg, elevated

•

en:hypotonia at birth

•

en:hypotonia (patient a)

•

en:hypomagnesemia

•

en:hypoalbuminemia

•

en:hyperuricuria

•

en:hypertonia

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:high ft3/ft4 ratio

•

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

•

en:heteroplasmic partial duplication of mtdna

•

en:hepatomegaly (1 family)

•

en:hepatitis, chronic, due to cryptosporidium infection

•

en:hepatic duct hypoplasia

•

en:hepatic amyloidosis

•

en:hematoma

•

en:grip strength decreased

•

en:glycoamino aciduria

•

en:generalized muscle weakness, proximal and distal

•

en:generalized muscle contractions, episodic

•

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

•

en:gastrocnemius and soleus muscles most affected

•

en:galactosemia

•

en:fulminant hepatic failure (reported in 1 patient)

•

en:focal ballooning of hepatocytes

•

en:fibrillation

•

en:female carriers show markedly skewed x inactivation

•

en:factor vii deficiency

•

en:extremely low creatine excretion

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:excessive urinary 5-oxo-l-proline

•

en:eosinophilic inclusions

•

en:enlarged nuclei with central pallor

•

en:enlarged liver with ductal plate malformation

•

en:end-stage liver disease before adulthood

•

en:emg shows myopathy

•

en:elevated total bilirubin

•

en:elevated serum parathyroid hormone (pth)

•

en:elevated liver transaminases

•

en:elevated leukotriene e(4)

•

en:elevated catecholamines (in patients with pheochromocytoma)

•

en:elevated 1,25(oh)2 d3

•

en:electrophysiologic studies show abnormal inactivation and delayed repolarization of the scn4a sodium channel

•

en:edema (hands and feet)

•

en:edema, subcutaneous, generalized

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:distal muscle wasting, mild

•

en:distal atrophy of the legs

•

en:diminished lymphocyte response to phytohemaglutinin

•

en:difficulty running and jumping

•

en:depletion of mtdna (skeletal muscle, fibroblasts)

•

en:deficiency or absence of p22-phox protein

•

en:defect in double-stranded dna repair

•

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

•

en:defective (ca2+) mobilization in t cells

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decrease plasma serine (fasting)

•

en:decreased serum vitamin a

•

en:decreased serum iga

•

en:decreased serum ferritin

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

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

•

en:decreased phk activity in liver

•

en:decreased or absent dihydropteridine reductase activity

•

en:decreased or absent ciliary motility

•

en:decreased or absent ankle reflexes

•

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

•

en:decreased mucosal alkaline phosphatase

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased mitochondrial complex iii activity in liver and fibroblasts

•

en:decreased methylcobalamin (mecbl)

•

en:decreased long-chain fatty acid oxidation

•

en:decreased csf hypocretin

•

en:decreased activity of thiopurine s-methyltransferase

•

en:decreased activity of ppt1

•

en:decreased activity of nadph oxidase

•

en:decreased activity of cytochrome c oxidase (in most cases)

•

en:decreased activity of 2-oxoacid dehydrogenases

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:congophilic inclusions

•

en:cirrhosis (in some)

•

en:chondroitin 6-sulfate excretion in urine

•

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

•

en:carnitine deficiency

•

en:buffalo hump

•

en:bone marrow hypoplasia (in some patients)

•

en:biopsy shows myopathy without vacuoles

•

en:biopsy shows deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers

•

en:bilirubin conjugated increased

•

en:bile duct dilatation (finding)

•

en:bile contains cholesterol crystals

•

en:biceps aplasia

•

en:a subset of patients develop bilateral weakness

•

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

•

en:autophagic vacuoles seen on biopsy (in some patients)

•

en:at least 2 complementation groups

•

en:atrophy of the small muscles in the hands and feet

•

en:atrophy of the intrinsic foot and hand muscles

•

en:atrial abnormalities on electrocardiogram

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:antiribonuclear protein positive

•

en:antineutrophil cytoplasmic antibody

•

en:angulated fibers

•

en:alpha ketoadipic aciduria

•

en:alpha 1 foetoprotein amniotic fluid increased

•

en:accumulation of guanidinoacetate in brain

•

en:absent anti-insulin receptor antibodies

•

en:absence of telethonin protein

•

en:absence of pectoralis minor muscle

•

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

•

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

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:abnormal liver function tests (less common)

•

en:abnormal liver enzymes, episodic

•

en:abnormal jitter seen on emg

•

en:hepatic lobule

•

en:wheelchair dependency in 20% of patients by age 40

•

en:variably decreased activities of mitochondrial respiratory complexes i, ii, and iv

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:usually no myopathic changes on biopsy

•

en:usually asymptomatic

•

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

•

en:unprocessed 3-oxoacyl coa thiolase

•

en:undetectable plasma dbh activity

•

en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:tryptophanuria

•

en:transferrin saturation increased

•

en:transcobalamin ii deficiency

•

en:thyroid dyshormonogenesis 3

•

en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)

•

en:superior rectus atrophy

•

en:subclinical abnormal liver function tests

•

en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk

•

en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution

•

en:serum creatine kinase may be increased

•

en:retain some mechanical adipose tissue (joints, orbits, palms, soles)

•

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

•

en:ragged-red fibers seen on muscle biopsy

•

en:pseudohypertrophy of muscle

•

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

•

en:pseudoacinar formation

•

en:proximal weakness of the lower limbs with longer disease duration

•

en:propionic acidemia

•

en:prolonged neonatal jaundice

•

en:prolonged activated partial prothrombin time (appt)

•

en:proliferation of fatty tissue in muscle (in some patients)

•

en:progressive liver failure

•

en:progressive distal muscle weakness

•

en:positive staining for complement c5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane

•

en:poor head control

•

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

•

en:phytanic acid increased

•

en:painful swelling in aponeuroses

•

en:no rods

•

en:no evidence of common prenatal infections

•

en:normal to slightly high alkaline phosphatase

•

en:normal to mildly increased serum creatine kinase

•

en:normal serum phosphorus

•

en:normal renin level

•

en:normal mitochondrial morphology (1 patient)

•

en:normal lactate (hcs)

•

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

•

en:nephrotic syndrome

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:neck muscle hypoplasia

•

en:myxedematous appearance

•

en:myofibromatosis affecting skin, muscle, bone, and viscera

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle fiber splitting

•

en:muscle cramps at rest

•

en:muscle biopsy shows pas-positive glycogen-containing vacuoles

•

en:muscle biopsy shows inflammation with t cells

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows dystrophic changes

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:mri shows increased signal intensity in affected muscles consistent with fatty infiltration

•

en:mri shows fatty replacement

•

en:mitochondria dna deletion

•

en:mitochondrial respiratory chain complex i, ii, and iii defect

•

en:mitochondrial dna depletion (in some)

•

en:mild variability in muscle fiber size

•

en:mild portal fibrosis

•

en:mildly elevated blood ammonia

•

en:microtubule disorganization in some cilia

•

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

•

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

•

en:lymphangiectasia

•

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

•

en:liver tissue shows 80 to 99% depletion of mitochondrial dna (mtdna) with decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:liver biopsy shows increased lipid droplets (microvesicular steatosis)

•

en:lipoma

•

en:lack of excessive parenchymal iron storage

•

en:jaundice, episodic

•

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

•

en:intrahepatic cholestasis, episodic, recurrent, may be permanent in some patients later in life

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:inflammation

•

en:infantile liver abnormalities in <20% with deficiency

•

en:indirect bilirubin increased

•

en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles

•

en:increased urinary urate

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased urinary hydroxyisovaleric acid

•

en:increased urinary glycerol

•

en:increased urinary excretion of camp

•

en:increased urinary carnitine esters

•

en:increased urinary and serum glycine

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased tissue levels of triglycerides

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased serum total cholesterol

•

en:increased serum lactate (patient a)

•

en:increased serum direct bilirubin

•

en:increased serum creatine kinase, mild

•

en:increased serum and csf lactate

•

en:increased platelet aggregation with ristocetin

•

en:increased phytanic acid in body tissues and fluids

•

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

•

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

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased csf lactate during acute episodes

•

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

•

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

•

en:increased circulating renin level

•

en:increased cholesterol

•

en:increased c10:2-carnitine

•

en:increased ammonia with exercise

•

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

•

en:inappropriately normal serum 1,25-dihydroxyvitamin d3

•

en:impaired mitochondrial respiration

•

en:immunoglobulin antibodies present

•

en:imaging shows progressive fatty infiltration of muscle

•

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

•

en:hypotonic

•

en:hypokalemia occurs during paralytic attacks

•

en:hypokalemia during attacks

•

en:hypoglycorrhachia (low glucose in csf)

•

en:hypogammaglobulinemia (in some patients)

•

en:hypertrophy of calves (in 3 of 6 patients)

•

en:hypertonia at birth

•

en:hyperlipidemia

•

en:high ornithine

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:high ebv viral load

•

en:hepatomegaly (harderoporphyria)

•

en:hepatic failure (less common)

•

en:hand muscle atrophy

•

en:gluteal hypoplasia

•

en:glutaric aciduria

•

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

•

en:global muscle weakness

•

en:giant cell transformation on biopsy

•

en:gaucher disease, type 1

•

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

•

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

•

en:fragmented mitochondrial network

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:fat pads on the hands and feet

•

en:fatal liver failure in infancy (occasional)

•

en:exercise-induced myoglobinuria in adults

•

en:enteroviral dermatomyositis syndrome

•

en:elevated white blood cell cystine

•

en:elevated urinary free sialic acid (n-acetylneuraminic acid)

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:elevated serum transferrin saturation

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated plasma ornithine (~10-fold)

•

en:elevated liver enzymes (in some patients)

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated calcitonin

•

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

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:electromyography shows myotonic discharges

•

en:edematous hands and feet (1 patient)

•

en:dystrophic changes

•

en:dorsal and flexor muscles of the forearm are involved

•

en:distal weakness, upper and lower limbs (variable)

•

en:distal muscle weakness due to neuropathy

•

en:distal lower limb muscle weakness

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:distal leg muscle atrophy

•

en:deposition of iron

•

en:defect in retrograde intraflagellar transport in cilia

•

en:defect in n- and o-glycosylation

•

en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

•

en:decreased tetrasialotransferrin levels

•

en:decreased serum factor i (atypical hus)

•

en:decreased serum c3 (atypical hus)

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased plasminogen antigen

•

en:decreased or normal serum factor i

•

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

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:decreased numbers of type 2b fibers

•

en:decreased muscle mass in the thighs

•

en:decreased mitochondrial nadp(h)

•

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

•

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

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased eno3 activity

•

en:decreased csf folate

•

en:decreased cerebrospinal fluid folic acid

•

en:decreased b cells

•

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

•

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

•

en:decreased activities of mitochondrial complexes i, ii, and iii

•

en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)

•

en:cox-negative fibers

•

en:cores have abrupt borders within normal regions of the muscle fiber

•

en:cirrhosis (in late-onset cases)

•

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

•

en:chromosomal rearrangement

•

en:cholestasis in newborn

•

en:cholestasis

•

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

•

en:canalicular cholestasis

•

en:calf muscle hypoplasia

•

en:buffalo hump (rare)

•

en:broad-based gait

•

en:bile duct plugging

•

en:atrophy of upper girdle muscles

•

en:asymmetric muscle involvement

•

en:amyotrophy of the upper limbs (in some patients)

•

en:amyotrophy, distal, upper and lower limbs

•

en:aminoaciduria (1 patient)

•

en:aldolase a deficiency

•

en:alanine aminotransferase increased

•

en:acute liver failure, episodic

•

en:acute hyperammonemia

•

en:acute-phase reactants during fever

•

en:absence of collagen vi immunostaining

•

en:abnormal liver function tests (sgot, sgpt)

•

en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:abnormal bile duct proliferation shown on biopsy

•

en:4-hydroxyphenylpyruvic aciduria

•

en:2-aminoadipic aciduria

•

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

•

en:liver stroma

•

en:widespread interstitial fibrosis (visceral organs)

•

en:walking may be limited

•

en:waddling gait

•

en:very low iga

•

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

•

en:variable respiratory chain enzyme deficiency

•

en:vacuole membranes show atpase reactivity consistent with origin from the sarcoplasmic reticulum

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

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

•

en:uremia

•

en:upper limb weakness

•

en:upper limb muscle hypoplasia

•

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

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:trunk muscle atrophy

•

en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands

•

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

•

en:submucosal macrophages filled with sphingolipids

•

en:stiffness

•

en:skeletal muscle biopsy shows reducing bodies

•

en:signs of denervation seen on biopsy

•

en:serum prolactin increased

•

en:serum iron normal

•

en:serum creatine kinase may be normal

•

en:serum bilirubin increased

•

en:serum aldosterone elevated

•

en:schirmer test shows alacrima

•

en:reduced serum uric acid

•

en:reduced muscle bulk

•

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

•

en:reduced erythrocyte gs activity

•

en:rectus medial atrophy

•

en:raised tsh level

•

en:ragged red fibers seen on biopsy

•

en:quadriceps atrophy

•

en:pt normal

•

en:proximal and distal muscle atrophy in lower limbs

•

en:proper antibody response to protein vaccinations

•

en:prominent leukocytosis (30,000/ml)

•

en:progressive distal and proximal symmetric limb weakness

•

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

•

en:premature chromosome condensation

•

en:positive staining for atpase activity at ph of 4.3

•

en:portal tract fibrosis

•

en:portal hypertension (in some patients)

•

en:poor sarcomeric structure (in some patients)

•

en:poor muscle build

•

en:poor exercise tolerance

•

en:pms show decreased levels of hepatic cyp2d6 enzyme

•

en:platelet function test normal

•

en:platelet aggregation decreased

•

en:pharyngeal muscle weakness

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

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

•

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

•

en:oligospermia or azoospermia

•

en:obstructive jaundice

•

en:no chromosomal breakage

•

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

•

en:normal serum lipoprotein levels

•

en:normal serum creatine kinase

•

en:normal plasma renin

•

en:normal phosphorylase kinase activity in muscle

•

en:normal or increased adipose tissue around the neck

•

en:normal lysyl oxidase activity

•

en:normal igm levels

•

en:neurogenic changes later in disease seen on emg

•

en:neurogenic atrophy seen on muscle biopsy

•

en:neonatal hepatitis

•

en:nemaline bodies (rods) on gomori trichrome staining seen on muscle biopsy

•

en:myopathic pattern on emg

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness associated with fasting or infection

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, distal, restricted to the lower limbs

•

en:muscle wasting (especially legs and arms)

•

en:muscle hypertrophy of the lower extremities

•

en:muscle fibers contain internal nuclei

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle biopsy shows small nerve terminals

•

en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows ragged-red fibers with decreased cox activity

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows core-like regions devoid of oxidative activity

•

en:muscle atrophy (variable)

•

en:muscle atrophy

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:multi-tailed spermatozoa

•

en:mitochondrial respiratory chain defects

•

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

•

en:mild weakness

•

en:mild to moderate thrombocytopenia (40-120 x 10(9)/l)

•

en:mildly elevated hdl in heterozygotes

•

en:mildly elevated creatine phosphokinase

•

en:microdeletion 22q11.2

•

en:march myoglobinuria

•

en:lymphedema, dorsa of feet

•

en:low serum calcium

•

en:lower limbs more affected than upper limbs

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:liver shows mitochondrial respiratory chain deficiencies of complexes iii and iv

•

en:liver dysfunction

•

en:liver biopsy shows portal and/or bridging fibrosis

•

en:lipodystrophy, generalized, panniculitis-induced (in some)

•

en:limb-girdle muscle weakness

•

en:left-sided liver (rare)

•

en:lactic acidemia

•

en:lactate high

•

en:ketonemia

•

en:jaundice

•

en:isovaleric acidemia

•

en:intrahepatic cholestasis, episodic, recurrent

•

en:intracanalicular cholestasis shown on biopsy

•

en:intermediate level of cellular sensitivity to uv light

•

en:inflammatory liver changes

•

en:indirect hyperbilirubinemia

•

en:increased urinary thiosulfate

•

en:increased urinary sulfatides

•

en:increased urinary ketones

•

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

•

en:increased urinary citric acid cycle intermediates

•

en:increased uric acid level

•

en:increased tissue long-chain acylcarnitines

•

en:increased serum triglycerides (in some patients)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased serum alanine

•

en:increased rai (radioactive iodine) uptake

•

en:increased plasma globotriaosylsphingosine (lyso-gb3)

•

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

•

en:increased muscle tone at birth

•

en:increased mitochondria with rare paracrystalline inclusions

•

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

•

en:increased intraabdominal fat

•

en:increased il6, episodic

•

en:increased il18

•

en:increased gamma-interferon

•

en:increased erythropoietin

•

en:increased endomysial connective tissue around muscle fibers

•

en:increased csf protein

•

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

•

en:immotile or weakly motile cilia

•

en:imaging shows muscle atrophy and fatty replacement

•

en:igm deficiency

•

en:hypotonia, infantile, severe

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hyponatremia

•

en:hypertriglyceridemia (rare)

•

en:hyperkalemia

•

en:hydroxyprolinuria

•

en:homocitrullinuria

•

en:high serum inosine levels

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:hepatosiderosis

•

en:hepatomegaly, mild

•

en:hepatic fibrosis (classic feature)

•

en:hair bulb tyrosinase present

•

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

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:glycosuria

•

en:glucose-6-phosphate deficiency

•

en:fiber size variation

•

en:fasciculation

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:enteroviral hepatitis

•

en:emg shows reduction of voluntary recruitment

◀

Génériques

[F] [H]

›

en:decreased

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6846428 • caches: c1=12 c2=1004 c3=1

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