Prenatal Diagnosis of Nonketotic Hyperglycinemia

摘要: Nonketotic hyperglycinemia is a rare autosomal recessive inborn error of glycine metabolism, characterized by markedly elevated levels in plasma, urine, and particularly cerebrospinal fluid. The disease carries grave prognosis, for progressive neurologic deterioration can occur often results the early death an affected neonate. In surviving infants, clinical signs include muscular hypotonia, myoclonic seizures, severe mental retardation, infancy or childhood. metabolic defect seems to reside reduced activity glycine-cleavage enzyme system. Several therapeutic approaches have been attempted, including exchange transfusion, dietary restriction intake, administration . . .