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Beneficial effects of L ‐serine and glycine in the management of seizures in 3‐phosphoglycerate dehydrogenase deficiency
Author(s) -
de Koning Tom J.,
Duran Marinus,
Dorland Lambertus,
Gooskens Rob,
van Schaftingen Emile,
Jaeken Jaak,
Blau Nenad,
Berger Ruud,
PollThe Bwee Tien
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410440219
Subject(s) - serine , glycine , microcephaly , dehydrogenase , epilepsy , biochemistry , endocrinology , medicine , chemistry , amino acid , enzyme , pediatrics , psychiatry
3‐Phosphoglycerate dehydrogenase (3‐PGDH) deficiency is an inborn error of serine biosynthesis. Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures. The effects of oral treatment with amino acids were investigated in 2 siblings. L‐Serine up to 500 mg/kg/day was not sufficient for seizure control. Addition of glycine 200 mg/kg/day resulted in complete disappearance of seizures. Electroencephalographic abnormalities gradually resolved after 6 months. We conclude that 3‐PGDH can be treated effectively by a combination of L ‐serine and glycine.