Nonketotic hyperglycinemia: studies in an atypical variant.
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.
Singer
H S
HS
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
Valle
D
D
Hayasaka
K
K
Tada
K
K
D000328:Adult; D002658:Developmental Disabilities / Q000150:complications / Q000503:physiopathology; D005998:Glycine / Q000097:blood*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007662:Ketosis / Q000150:complications; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000235:genetics*; D010641:Phenotype; D011597:Psychomotor Performance
D005998:Glycine