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Hyperammonemia due to N-acetylglutamate synthase deficiency

ORPHA:927 · Disease · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(1)

  • HyperammonemiaHP:0001987

Frequent (79-30%)(3)

  • Floppy infantHP:0008947
  • NauseaHP:0002018
  • VomitingHP:0002013

Occasional (29-5%)(21)

  • Acute hyperammonemiaHP:0008281
  • AgitationHP:0000713
  • AnxietyHP:0000739
  • Cognitive impairmentHP:0100543
  • ComaHP:0001259
  • ConfusionHP:0001289
  • DrowsinessHP:0002329
  • Emotional labilityHP:0000712
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • HeadacheHP:0002315
  • HyperalaninemiaHP:0003348
  • HyperglutaminemiaHP:0003217
  • InsomniaHP:0100785
  • LethargyHP:0001254
  • Loss of consciousnessHP:0007185
  • Poor appetiteHP:0004396
  • Poor speechHP:0002465
  • SeizureHP:0001250

Very rare (<4-1%)(17)

  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Cerebral ischemiaHP:0002637
  • DeliriumHP:0031258
  • DiarrheaHP:0002014
  • EcholaliaHP:0010529
  • EncephalopathyHP:0001298
  • HepatomegalyHP:0002240
  • MicrocephalyHP:0000252
  • Motor stereotypyHP:0000733
  • MyelodysplasiaHP:0002863
  • ParaplegiaHP:0010550
  • PolyneuropathyHP:0001271
  • Psychotic episodesHP:0000725
  • Respiratory distressHP:0002098
  • Reye syndrome-like episodesHP:0006582
  • StrokeHP:0001297