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Carnitine palmitoyltransferase II deficiency

ORPHA:157 · Disease · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(3)

  • Muscle weaknessHP:0001324
  • MyalgiaHP:0003326
  • Reduced tissue carnitine O-palmitoyltransferase 2 activityHP:0012380

Frequent (79-30%)(10)

  • Decreased plasma free carnitineHP:0008315
  • Decreased plasma total carnitineHP:0011936
  • Elevated circulating acylcarnitine concentrationHP:0045045
  • Elevated circulating creatine kinase activityHP:0003236
  • Exercise intoleranceHP:0003546
  • Exercise-induced myalgiaHP:0003738
  • HyperlipidemiaHP:0003077
  • MyoglobinuriaHP:0002913
  • MyopathyHP:0003198
  • Red-brown urineHP:0040320

Occasional (29-5%)(11)

  • Cold-induced muscle crampsHP:0003449
  • Episodic abdominal painHP:0002574
  • Exercise-induced muscle crampsHP:0003710
  • HeadacheHP:0002315
  • HepatomegalyHP:0002240
  • Intermittent painful muscle spasmsHP:0011964
  • Renal tubular epithelial necrosisHP:0008682
  • RhabdomyolysisHP:0003201
  • SeizureHP:0001250
  • Stage 5 chronic kidney diseaseHP:0003774
  • Tubulointerstitial nephritisHP:0001970

Very rare (<4-1%)(18)

  • Abnormal basal ganglia morphologyHP:0002134
  • Abnormal brain morphologyHP:0012443
  • Abnormality of neuronal migrationHP:0002269
  • Agenesis of corpus callosumHP:0001274
  • ArrhythmiaHP:0011675
  • CardiomyopathyHP:0001638
  • Cerebellar vermis hypoplasiaHP:0001320
  • Cerebral calcificationHP:0002514
  • ComaHP:0001259
  • Cystic renal dysplasiaHP:0000800
  • Hepatic calcificationHP:0006559
  • Hepatic failureHP:0001399
  • HydrocephalusHP:0000238
  • Hypoketotic hypoglycemiaHP:0001985
  • Neonatal respiratory distressHP:0002643
  • PachygyriaHP:0001302
  • Polycystic kidney dysplasiaHP:0000113
  • PolymicrogyriaHP:0002126