Nonketotic hyperglycinemia: Studies in an atypical variant

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

doi:10.1212/wnl.39.2.286

Nonketotic hyperglycinemia: Studies in an atypical variant

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

Johns Hopkins Hospital

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

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 language	English (US)
Pages (from-to)	286-288
Number of pages	3
Journal	Neurology
Volume	39
Issue number	2
DOIs	https://doi.org/10.1212/wnl.39.2.286
State	Published - Feb 1989

ASJC Scopus subject areas

Clinical Neurology

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title = "Nonketotic hyperglycinemia: Studies in an atypical variant",

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.",

author = "Singer, {Harvey S.} and David Valle and Kiyoshi Hayasaka and Keiya Tada",

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AB - 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.

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Nonketotic hyperglycinemia: Studies in an atypical variant

Abstract

ASJC Scopus subject areas

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