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Fumaric aciduria

ORPHA:24 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(1)

  • Decreased fumarate hydratase activityHP:0003536

Frequent (79-30%)(14)

  • Cerebral atrophyHP:0002059
  • Depressed nasal bridgeHP:0005280
  • EncephalopathyHP:0001298
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • LethargyHP:0001254
  • PolyhydramniosHP:0001561
  • Premature birthHP:0001622
  • SeizureHP:0001250
  • VentriculomegalyHP:0002119

Occasional (29-5%)(25)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal corpus callosum morphologyHP:0001273
  • Anteverted naresHP:0000463
  • Bilateral polymicrogyriaHP:0025646
  • Cerebral hypomyelinationHP:0006808
  • Cerebral visual impairmentHP:0100704
  • Cleft ala nasiHP:0003191
  • ComaHP:0001259
  • Decreased total neutrophil countHP:0001875
  • Delayed myelinationHP:0012448
  • DystoniaHP:0001332
  • Elevated urine fumaric acid levelHP:0034648
  • HepatomegalyHP:0002240
  • HypsarrhythmiaHP:0002521
  • Increased urine alpha-ketoglutarate concentrationHP:0012402
  • Infantile spasmsHP:0012469
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • OligohydramniosHP:0001562
  • Optic atrophyHP:0000648
  • PolycythemiaHP:0001901
  • Poor head controlHP:0002421
  • Reduced eye contactHP:0000817
  • Tented upper lip vermilionHP:0010804
  • VomitingHP:0002013

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

  • HyperammonemiaHP:0001987
  • HypoglycemiaHP:0001943
  • Lactic acidosisHP:0003128
  • Metabolic acidosisHP:0001942