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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

ORPHA:238583 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(1)

  • HyperphenylalaninemiaHP:0004923

Frequent (79-30%)(8)

  • Abnormal circulating biopterin concentrationHP:0040210
  • Abnormal circulating neopterin concentrationHP:0040206
  • Abnormal urinary nitrogen compound levelHP:0040416
  • Atypical behaviorHP:0000708
  • Decreased CSF homovanillic acid concentrationHP:0003785
  • Excessive salivationHP:0003781
  • HypotoniaHP:0001252
  • Neurodevelopmental delayHP:0012758

Occasional (29-5%)(15)

  • Basal ganglia calcificationHP:0002135
  • Cognitive impairmentHP:0100543
  • Decreased circulating catecholamine concentrationHP:6000482
  • Delayed speech and language developmentHP:0000750
  • DystoniaHP:0001332
  • Elevated urinary 7-biopterin levelHP:0033594
  • HypertoniaHP:0001276
  • HypomagnesemiaHP:0002917
  • Maturity-onset diabetes of the youngHP:0004904
  • MicrocephalyHP:0000252
  • Oculogyric crisisHP:0010553
  • ParkinsonismHP:0001300
  • Poor head controlHP:0002421
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360