3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.
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 4 1/2-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.
Coşkun
Turgay
T
Unit of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Aydin
Halil Ibrahim
HI
Kiliç
Mustafa
M
Dursun
Ali
A
Haliloğlu
Göknur
G
Topaloğlu
Haluk
H
Karli-Oğuz
Kader
K
de Koning
Tom J
TJ
D003677:Deficiency Diseases / Q000150:complications / Q000178:diet therapy* / Q000201:enzymology; D019587:Dietary Supplements; D005500:Follow-Up Studies; D005998:Glycine / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D008297:Male; D050543:Phosphoglycerate Dehydrogenase / Q000097:blood / Q000172:deficiency*; D012640:Seizures / Q000178:diet therapy / Q000201:enzymology / Q000209:etiology*; D012694:Serine / Q000627:therapeutic use*
D012694:Serine; D050543:Phosphoglycerate Dehydrogenase; D005998:Glycine