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5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.

AuthorsE Mayatepek, G F Hoffmann, A Larsson, K Becker, H J Bremer
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 18 Issue 1 Pg. 83-4 ( 1995) ISSN: 0141-8955 [Print] United States
PMID7542714 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Pyroglutamate Hydrolase
  • Glutathione Synthase
  • Glutathione
Topics
  • Anemia (enzymology, genetics)
  • Developmental Disabilities (enzymology, genetics)
  • Failure to Thrive (enzymology, genetics)
  • Female
  • Glutathione (blood)
  • Glutathione Synthase (blood)
  • Humans
  • Infant, Newborn
  • Microcephaly (enzymology, genetics)
  • Pyroglutamate Hydrolase (deficiency)

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