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Carnitine palmitoyl transferase 1A deficiency

ORPHA:156 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(11)

  • Abnormal speech patternHP:0002167
  • Abnormality of metabolism/homeostasisHP:0001939
  • Atypical behaviorHP:0000708
  • Diminished deep tendon reflexHP:0001315
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • FatigueHP:0012378
  • Hepatic failureHP:0001399
  • HypoglycemiaHP:0001943
  • HypotoniaHP:0001252
  • SeizureHP:0001250
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(6)

  • ComaHP:0001259
  • Hemiplegia/hemiparesisHP:0004374
  • HepatomegalyHP:0002240
  • LethargyHP:0001254
  • Loss of consciousnessHP:0007185
  • Transient hyperlipidemiaHP:0008279

Occasional (29-5%)(4)

  • ArrhythmiaHP:0011675
  • Hypertrophic cardiomyopathyHP:0001639
  • Renal tubular acidosisHP:0001947
  • Sudden cardiac deathHP:0001645