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5-oxoprolinase deficiency

ORPHA:33572 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(2)

  • Increased level of L-pyroglutamic acid in urineHP:0410132
  • Reduced circulating 5-oxoprolinase activityHP:0040142

Frequent (79-30%)(1)

  • Global developmental delayHP:0001263

Occasional (29-5%)(16)

  • Cerebral atrophyHP:0002059
  • Delayed speech and language developmentHP:0000750
  • EnterocolitisHP:0004387
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • HypersomniaHP:0100786
  • HypoglycemiaHP:0001943
  • HypotoniaHP:0001252
  • JaundiceHP:0000952
  • Kidney stoneHP:0000787
  • Metabolic acidosisHP:0001942
  • MicrocephalyHP:0000252
  • Postnatal macrocephalyHP:0005490
  • SeizureHP:0001250
  • StrabismusHP:0000486