Nonketotic hyperglycinemia: Studies in an atypical variant

Harvey S. Singer, David Valle, Kiyoshi Hayasaka, Keiya Tada

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)286-288
Number of pages3
JournalNeurology
Volume39
Issue number2
DOIs
StatePublished - Feb 1989

ASJC Scopus subject areas

  • Clinical Neurology

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