← 返回搜尋

Multiple acyl-CoA dehydrogenase deficiency

ORPHA:26791 · Disease · Disorder

HPO 表現型（共 58 項）

Frequent (79-30%)(6)

  • Elevated circulating creatine kinase activityHP:0003236
  • Exercise-induced muscle fatigueHP:0009020
  • HypoglycemiaHP:0001943
  • HypotoniaHP:0001252
  • MyalgiaHP:0003326
  • Proximal muscle weaknessHP:0003701

Occasional (29-5%)(36)

  • 3-Methylglutaric aciduriaHP:0003344
  • Abnormal heart morphologyHP:0001627
  • Abnormal pinna morphologyHP:0000377
  • Abnormality of the skeletal systemHP:0000924
  • AreflexiaHP:0001284
  • Congestive heart failureHP:0001635
  • Decreased circulating carnitine concentrationHP:0003234
  • Decreased liver functionHP:0001410
  • Depressed nasal bridgeHP:0005280
  • Difficulty climbing stairsHP:0003551
  • DysphagiaHP:0002015
  • DyspneaHP:0002094
  • Elevated circulating acylcarnitine concentrationHP:0045045
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Ethylmalonic aciduriaHP:0003219
  • Exercise intoleranceHP:0003546
  • Fatigable weakness of neck musclesHP:0030199
  • Feeding difficultiesHP:0011968
  • Glutaric aciduriaHP:0003150
  • Hepatic periportal necrosisHP:0002614
  • HepatomegalyHP:0002240
  • High foreheadHP:0000348
  • HyperammonemiaHP:0001987
  • HyperlordosisHP:0003307
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • Increased intramyocellular lipid dropletsHP:0012240
  • Lactic acidosisHP:0003128
  • LacticaciduriaHP:0003648
  • Metabolic acidosisHP:0001942
  • Phenotypic abnormalityHP:0000118
  • Respiratory failureHP:0002878
  • SeizureHP:0001250
  • Skeletal muscle atrophyHP:0003202
  • TelecanthusHP:0000506
  • VomitingHP:0002013
  • Wide anterior fontanelHP:0000260

Very rare (<4-1%)(16)

  • Abnormality of the genital systemHP:0000078
  • Acute pancreatitisHP:0001735
  • ArrhythmiaHP:0011675
  • CardiomyopathyHP:0001638
  • Cardiorespiratory arrestHP:0006543
  • EncephalopathyHP:0001298
  • GliosisHP:0002171
  • Gray matter heterotopiaHP:0002282
  • Inability to walkHP:0002540
  • MacrocephalyHP:0000256
  • Polycystic kidney dysplasiaHP:0000113
  • Poor head controlHP:0002421
  • Restrictive ventilatory defectHP:0002091
  • Reye syndrome-like episodesHP:0006582
  • RhabdomyolysisHP:0003201
  • Scapular wingingHP:0003691