The Turkish Journal of Pediatrics 2009 , Vol 51 , Num 6
3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures
Units of 1Metabolism and Nutrition and 2Pediatric Neurology, Department of Pediatrics, and 3Department of Radiology,Hacettepe University Faculty of Medicine, Ankara, Turkey, and 4Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures.

We report a 4½-year-old boy who presented with congenital microcephaly, psychomotor retardation, hypertonia, strabismus, and drug-resistant seizures due to 3-PGDH deficiency. His seizures responded to L-serine and glycine supplementation only.

This potentially treatable disease should be borne in mind in patients with congenital microcephaly, psychomotor retardation and seizures. A timely diagnosis based on the detection of low cerebrospinal fluid levels of L-serine and glycine is expected to further increase the success of L-serine and glycine supplementation in these patients. Keywords : L-serine deficiency syndromes, 3-phosphoglycerate dehydrogenase deficiency, congenital microcephaly, drug-resistant seizures, L-serine supplementation.

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