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3-phosphoglycerate dehydrogenase deficiency : A case report of a treatable cause of seizures

Coşkun, Turgay ; Aydin, Halil Ibrahim ; Kiliç, Mustafa ; Dursun, Ali ; Haliloǧlu, Göknur ; Topaloǧlu, Haluk ; Karli-Oǧuz, Kader and De Koning, Tom J. LU (2009) In Turkish Journal of Pediatrics 51(6). p.587-592
Abstract

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,... (More)

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.

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author
; ; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
3-phosphoglycerate dehydrogenase deficiency, Congenital microcephaly, Drug-resistant seizures, L-serine deficiency syndromes, L-serine supplementation
in
Turkish Journal of Pediatrics
volume
51
issue
6
pages
6 pages
publisher
Turkish National Pediatric Society
external identifiers
  • pmid:20196394
  • scopus:76649102412
ISSN
0041-4301
language
English
LU publication?
no
id
623836f1-135b-45b9-a0bd-01c5a13ab1e8
date added to LUP
2020-02-28 13:49:22
date last changed
2025-04-04 15:03:05
@article{623836f1-135b-45b9-a0bd-01c5a13ab1e8,
  abstract     = {{<p>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.</p>}},
  author       = {{Coşkun, Turgay and Aydin, Halil Ibrahim and Kiliç, Mustafa and Dursun, Ali and Haliloǧlu, Göknur and Topaloǧlu, Haluk and Karli-Oǧuz, Kader and De Koning, Tom J.}},
  issn         = {{0041-4301}},
  keywords     = {{3-phosphoglycerate dehydrogenase deficiency; Congenital microcephaly; Drug-resistant seizures; L-serine deficiency syndromes; L-serine supplementation}},
  language     = {{eng}},
  month        = {{11}},
  number       = {{6}},
  pages        = {{587--592}},
  publisher    = {{Turkish National Pediatric Society}},
  series       = {{Turkish Journal of Pediatrics}},
  title        = {{3-phosphoglycerate dehydrogenase deficiency : A case report of a treatable cause of seizures}},
  volume       = {{51}},
  year         = {{2009}},
}