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Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

✍ Scribed by Dr. Tom J. de Koning; Marinus Duran; Lambertus Dorland; Rob Gooskens; Emile van Schaftingen; Jaak Jaeken; Nenad Blau; Ruud Berger; Bwee Tien Poll-The

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 435 KB
Volume: 44
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410440219

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

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.

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