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

J Inherit Metab Dis. 1995;18(1):83-4. doi: 10.1007/BF00711382.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia / enzymology
  • Anemia / genetics
  • Developmental Disabilities / enzymology
  • Developmental Disabilities / genetics*
  • Failure to Thrive / enzymology
  • Failure to Thrive / genetics
  • Female
  • Glutathione / blood
  • Glutathione Synthase / blood
  • Humans
  • Infant, Newborn
  • Microcephaly / enzymology
  • Microcephaly / genetics
  • Pyroglutamate Hydrolase / deficiency*

Substances

  • Pyroglutamate Hydrolase
  • Glutathione Synthase
  • Glutathione