← 返回搜尋

Carnitine-acylcarnitine translocase deficiency

ORPHA:159 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(20)

  • ArrhythmiaHP:0011675
  • CardiomyopathyHP:0001638
  • Decreased circulating carnitine concentrationHP:0003234
  • Dicarboxylic aciduriaHP:0003215
  • Elevated circulating acylcarnitine concentrationHP:0045045
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated creatine kinase after exerciseHP:0008331
  • EncephalopathyHP:0001298
  • Fasting hypoglycemiaHP:0003162
  • Global developmental delayHP:0001263
  • HepatomegalyHP:0002240
  • HyperammonemiaHP:0001987
  • Hypoketotic hypoglycemiaHP:0001985
  • HypotensionHP:0002615
  • IrritabilityHP:0000737
  • LethargyHP:0001254
  • Muscle weaknessHP:0001324
  • Respiratory insufficiencyHP:0002093
  • RhabdomyolysisHP:0003201
  • Ventricular tachycardiaHP:0004756

Occasional (29-5%)(10)

  • ComaHP:0001259
  • CyanosisHP:0000961
  • Hepatic failureHP:0001399
  • HypothermiaHP:0002045
  • MicrocephalyHP:0000252
  • NystagmusHP:0000639
  • OliguriaHP:0100520
  • PreeclampsiaHP:0100602
  • SeizureHP:0001250
  • Sudden episodic apneaHP:0002882