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Malonic aciduria

ORPHA:943 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(4)

  • Delayed speech and language developmentHP:0000750
  • DystoniaHP:0001332
  • Elevated urine malonic acid levelHP:0034657
  • Methylmalonic aciduriaHP:0012120

Frequent (79-30%)(10)

  • CardiomyopathyHP:0001638
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HypoglycemiaHP:0001943
  • Metabolic acidosisHP:0001942
  • MicrocephalyHP:0000252
  • Reduced malonyl-CoA decarboxylase activity in cultured fibroblastsHP:6000355
  • SeizureHP:0001250

Occasional (29-5%)(5)

  • DiarrheaHP:0002014
  • HypotoniaHP:0001252
  • KetosisHP:0001946
  • LethargyHP:0001254
  • VomitingHP:0002013