Prenatal Diagnosis of Nonketotic Hyperglycinemia
- 14 January 1982
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 306 (2), 79-81
- https://doi.org/10.1056/nejm198201143060205
Abstract
Nonketotic hyperglycinemia is a rare autosomal recessive inborn error of glycine metabolism, characterized by markedly elevated levels of glycine in plasma, urine, and particularly cerebrospinal fluid. The disease carries a grave prognosis, for progressive neurologic deterioration can occur and often results in the early death of an affected neonate. In surviving infants, the clinical signs include muscular hypotonia, myoclonic seizures, severe mental retardation, and death in infancy or childhood. The metabolic defect seems to reside in reduced activity of the glycine-cleavage enzyme system. Several therapeutic approaches have been attempted, including exchange transfusion, dietary restriction of glycine intake, and administration of . . .Keywords
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