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3-hydroxy-3-methylglutaric aciduria

ORPHA:20 · Disease · Disorder

HPO 表現型（共 54 項）

Very frequent (99-80%)(4)

  • 3-Methylglutaric aciduriaHP:0003344
  • HyperammonemiaHP:0001987
  • Metabolic acidosisHP:0001942
  • Nonketotic hypoglycemiaHP:0001958

Frequent (79-30%)(17)

  • AnemiaHP:0001903
  • AnorexiaHP:0002039
  • ApathyHP:0000741
  • EEG abnormalityHP:0002353
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Episodic vomitingHP:0002572
  • HepatomegalyHP:0002240
  • HyperuricemiaHP:0002149
  • HypotoniaHP:0001252
  • Increased circulating lactate concentrationHP:0002151
  • LethargyHP:0001254
  • Lipid accumulation in hepatocytesHP:0006561
  • Prolonged prothrombin timeHP:0008151
  • Recurrent hypoglycemiaHP:0001988
  • Reye syndrome-like episodesHP:0006582
  • SeizureHP:0001250
  • TachypneaHP:0002789

Occasional (29-5%)(22)

  • ApneaHP:0002104
  • ComaHP:0001259
  • Decreased total leukocyte countHP:0001882
  • DehydrationHP:0001944
  • DiarrheaHP:0002014
  • EdemaHP:0000969
  • EncephalopathyHP:0001298
  • FatigueHP:0012378
  • FeverHP:0001945
  • HyporeflexiaHP:0001265
  • HypotensionHP:0002615
  • HypsarrhythmiaHP:0002521
  • Increased total leukocyte countHP:0001974
  • JaundiceHP:0000952
  • KetonuriaHP:0002919
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • MyoclonusHP:0001336
  • PallorHP:0000980
  • Severe intellectual disabilityHP:0010864
  • ThrombocytosisHP:0001894
  • Weight lossHP:0001824

Very rare (<4-1%)(11)

  • Acute pancreatitisHP:0001735
  • AtaxiaHP:0001251
  • Cardiac arrestHP:0001695
  • Dilated cardiomyopathyHP:0001644
  • DysarthriaHP:0001260
  • Hypoglycemic comaHP:0001325
  • HypothermiaHP:0002045
  • LeukoencephalopathyHP:0002352
  • MicrocephalyHP:0000252
  • Spastic hemiparesisHP:0011099
  • SpasticityHP:0001257