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Pyruvate carboxylase deficiency

ORPHA:3008 · Disease · Disorder

HPO 表現型（共 70 項）

Very frequent (99-80%)(3)

  • Elevated lactate:pyruvate ratioHP:0032653
  • Increased circulating lactate concentrationHP:0002151
  • Lactic acidosisHP:0003128

Frequent (79-30%)(26)

  • Abnormal CSF pyruvate family amino acid concentrationHP:0500231
  • Decreased CSF glutamine concentrationHP:0500198
  • Elevated brain choline level by MRSHP:0012706
  • Elevated brain lactate level by MRSHP:0012707
  • Elevated plasma citrullineHP:0011966
  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • HyperalaninemiaHP:0003348
  • HyperammonemiaHP:0001987
  • HyperglutamatemiaHP:0500149
  • HyperketonemiaHP:0410175
  • HyperlysinemiaHP:0002161
  • HyperprolinemiaHP:0008358
  • HypertaurinemiaHP:0500181
  • HypoglutaminemiaHP:0500147
  • Increased caudate lactate levelHP:0012644
  • Increased circulating pyruvate concentrationHP:0003542
  • Increased CSF alanine concentrationHP:0500233
  • Increased CSF citrulline concentrationHP:0500246
  • Increased CSF glutamate concentrationHP:0500200
  • Increased CSF lactateHP:0002490
  • LacticaciduriaHP:0003648
  • Metabolic acidosisHP:0001942
  • Neurodevelopmental delayHP:0012758
  • Reduced brain N-acetyl aspartate level by MRSHP:0012708
  • SeizureHP:0001250

Occasional (29-5%)(39)

  • Abnormal pattern of respirationHP:0002793
  • Abnormal pyramidal signHP:0007256
  • Abnormal temper tantrumsHP:0025160
  • Agenesis of corpus callosumHP:0001274
  • AnorexiaHP:0002039
  • ApathyHP:0000741
  • AtaxiaHP:0001251
  • Basal ganglia gliosisHP:0006999
  • Cerebellar gliosisHP:0012698
  • Cerebral white matter atrophyHP:0012762
  • CNS hypomyelinationHP:0003429
  • Compulsive behaviorsHP:0000722
  • DehydrationHP:0001944
  • Delayed ability to sitHP:0025336
  • Delayed myelinationHP:0012448
  • DyskinesiaHP:0100660
  • DystoniaHP:0001332
  • Excessive daytime somnolenceHP:0001262
  • Generalized clonic seizureHP:0011169
  • Generalized hypotoniaHP:0001290
  • HepatomegalyHP:0002240
  • HyperglycemiaHP:0003074
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HypernatremiaHP:0003228
  • HypoglycemiaHP:0001943
  • HypotoniaHP:0001252
  • Infantile spasmsHP:0012469
  • Intellectual disabilityHP:0001249
  • Neonatal hyperbilirubinemiaHP:0003265
  • NystagmusHP:0000639
  • Periventricular cystsHP:0007109
  • Poor speechHP:0002465
  • Reduced eye contactHP:0000817
  • Subependymal cystsHP:0002416
  • TachypneaHP:0002789
  • Tip-toe gaitHP:0030051
  • TremorHP:0001337
  • VentriculomegalyHP:0002119
  • VomitingHP:0002013

Very rare (<4-1%)(2)

  • ComaHP:0001259
  • Recurrent hand flappingHP:0100023