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Carnitine palmitoyl transferase II deficiency, myopathic form

ORPHA:228302 · Clinical subtype · Subtype of disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(6)

  • Exercise intoleranceHP:0003546
  • Exercise-induced myalgiaHP:0003738
  • MyalgiaHP:0003326
  • MyoglobinuriaHP:0002913
  • Red-brown urineHP:0040320
  • Reduced tissue carnitine O-palmitoyltransferase 2 activityHP:0012380

Frequent (79-30%)(4)

  • Elevated circulating acylcarnitine concentrationHP:0045045
  • Elevated circulating long chain fatty acid concentrationHP:0003455
  • Muscle fiber atrophyHP:0100295
  • Muscle weaknessHP:0001324

Occasional (29-5%)(11)

  • Cold-induced muscle crampsHP:0003449
  • Elevated circulating creatine kinase activityHP:0003236
  • Exercise-induced muscle crampsHP:0003710
  • Increased muscle lipid contentHP:0009058
  • Intermittent painful muscle spasmsHP:0011964
  • Muscle spasmHP:0003394
  • Renal insufficiencyHP:0000083
  • Renal tubular epithelial necrosisHP:0008682
  • RhabdomyolysisHP:0003201
  • Stage 5 chronic kidney diseaseHP:0003774
  • Tubulointerstitial nephritisHP:0001970