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Carnitine palmitoyl transferase II deficiency, severe infantile form

ORPHA:228305 · Clinical subtype · Subtype of disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(1)

  • Reduced tissue carnitine O-palmitoyltransferase 2 activityHP:0012380

Frequent (79-30%)(16)

  • Cold-induced muscle crampsHP:0003449
  • Decreased plasma free carnitineHP:0008315
  • Decreased plasma total carnitineHP:0011936
  • Elevated circulating acylcarnitine concentrationHP:0045045
  • Elevated circulating creatine kinase activityHP:0003236
  • Episodic abdominal painHP:0002574
  • Exercise intoleranceHP:0003546
  • Exercise-induced muscle crampsHP:0003710
  • Exercise-induced myalgiaHP:0003738
  • HeadacheHP:0002315
  • Intermittent painful muscle spasmsHP:0011964
  • Muscle weaknessHP:0001324
  • MyalgiaHP:0003326
  • MyoglobinuriaHP:0002913
  • MyopathyHP:0003198
  • Red-brown urineHP:0040320

Occasional (29-5%)(12)

  • ArrhythmiaHP:0011675
  • CardiomyopathyHP:0001638
  • Dandy-Walker malformationHP:0001305
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Hepatic failureHP:0001399
  • Hepatic steatosisHP:0001397
  • HepatomegalyHP:0002240
  • Hypoglycemic encephalopathyHP:0006929
  • Hypoketotic hypoglycemiaHP:0001985
  • RhabdomyolysisHP:0003201
  • SeizureHP:0001250
  • Ventricular hypertrophyHP:0001714