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Nonketotic hyperglycinemia: studies in an atypical variant.
- Source :
-
Neurology [Neurology] 1989 Feb; Vol. 39 (2 Pt 1), pp. 286-8. - Publication Year :
- 1989
-
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.
- Subjects :
- Adult
Developmental Disabilities complications
Developmental Disabilities physiopathology
Humans
Intellectual Disability complications
Ketosis complications
Male
Metabolism, Inborn Errors blood
Metabolism, Inborn Errors complications
Phenotype
Psychomotor Performance
Glycine blood
Metabolism, Inborn Errors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0028-3878
- Volume :
- 39
- Issue :
- 2 Pt 1
- Database :
- MEDLINE
- Journal :
- Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 2464775
- Full Text :
- https://doi.org/10.1212/wnl.39.2.286