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Medium chain acyl-CoA dehydrogenase deficiency

ORPHA:42 · Disease · Disorder

HPO 表現型（共 37 項）

Frequent (79-30%)(12)

  • Decreased liver functionHP:0001410
  • Decreased plasma total carnitineHP:0011936
  • Dicarboxylic aciduriaHP:0003215
  • Diminished deep tendon reflexHP:0001315
  • Exercise-induced myalgiaHP:0003738
  • Fatigable weaknessHP:0003473
  • Fatigable weakness of neck musclesHP:0030199
  • HepatomegalyHP:0002240
  • HyperammonemiaHP:0001987
  • HypotoniaHP:0001252
  • Proximal muscle weaknessHP:0003701
  • VomitingHP:0002013

Occasional (29-5%)(25)

  • Abnormal circulating lactate dehydrogenase concentrationHP:0045040
  • ArrhythmiaHP:0011675
  • AtaxiaHP:0001251
  • Bilateral tonic-clonic seizureHP:0002069
  • CachexiaHP:0004326
  • CardiomegalyHP:0001640
  • ComaHP:0001259
  • Delayed speech and language developmentHP:0000750
  • DiarrheaHP:0002014
  • Distal arthrogryposisHP:0005684
  • Elevated circulating creatine kinase activityHP:0003236
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated urinary 3-hydroxybutyric acidHP:0040155
  • Exertional dyspneaHP:0002875
  • FatigueHP:0012378
  • Febrile seizure (within the age range of 3 months to 6 years)HP:0002373
  • Hepatic steatosisHP:0001397
  • HypoglycemiaHP:0001943
  • KetosisHP:0001946
  • LethargyHP:0001254
  • Loss of consciousnessHP:0007185
  • MacrocephalyHP:0000256
  • Muscle spasmHP:0003394
  • MyopathyHP:0003198
  • Skeletal muscle atrophyHP:0003202