Nonketotic hyperglycinemia: studies in an atypical variant

Neurology. 1989 Feb;39(2 Pt 1):286-8. doi: 10.1212/wnl.39.2.286.

Abstract

We diagnosed a 22-year-old man with psychomotor retardation, rare seizures, hyperglycinemia, and hyperglycinuria as an atypical variant of nonketotic hyperglycinemia (NKH). Despite this clinical phenotype and a CSF/plasma ratio confirming a mild variant, measurement of hepatic glycine cleavage activity and the P-protein component indicated the more severe neonatal variant.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Developmental Disabilities / complications
  • Developmental Disabilities / physiopathology
  • Glycine / blood*
  • Humans
  • Intellectual Disability / complications
  • Ketosis / complications
  • Male
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / genetics*
  • Phenotype
  • Psychomotor Performance

Substances

  • Glycine