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Pyruvate dehydrogenase E2 deficiency

ORPHA:79244 · Clinical subtype · Subtype of disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(3)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Abnormal CSF pyruvate family amino acid concentrationHP:0500231
  • Decreased circulating vitamin B1 concentrationHP:0100503

Frequent (79-30%)(21)

  • Abnormality of eye movementHP:0000496
  • Abnormality of the nervous systemHP:0000707
  • Arm dystoniaHP:0031960
  • Atypical behaviorHP:0000708
  • Babinski signHP:0003487
  • Broad-based gaitHP:0002136
  • Delayed ability to standHP:0025335
  • Delayed ability to walkHP:0031936
  • DysarthriaHP:0001260
  • Eye of the tiger anomaly of globus pallidusHP:0002454
  • Frog-leg postureHP:0031139
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • HypertoniaHP:0001276
  • Lower limb hyperreflexiaHP:0002395
  • NeurodegenerationHP:0002180
  • Paroxysmal dystoniaHP:0002268
  • Positional foot deformityHP:0005656
  • Retinal degenerationHP:0000546
  • Severe intellectual disabilityHP:0010864
  • Upgaze palsyHP:0025331

Occasional (29-5%)(7)

  • AnxietyHP:0000739
  • DementiaHP:0000726
  • Functional motor deficitHP:0004302
  • MicrocephalyHP:0000252
  • Peripheral visual field lossHP:0007994
  • Speech apraxiaHP:0011098
  • StrabismusHP:0000486