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Nonketotic hyperglycinemia

Studies in an atypical variant

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MO (Dr. Singer)
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MO (Drs. Singer and Valle)
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Dr. Valle is an investigator in the Howard Hughes Medical Institute (Drs. Hayasaka and Tada).

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.

Address correspondence and reprint requests to Dr. Singer, Department of Neurology, Meyer 5–109, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD 21205.

Supported in part by a grant (NIH 5-M01RR-00052) to the Pediatric Clinical Research Unit at the Johns Hopkins Hospital.

Received July 1, 1988. Accepted for publication in final form August 30, 1988.

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