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 pathwa...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2009-12-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2362 |
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| author | Turgay Coşkun Halil Ibrahim Aydin Mustafa Kiliç Ali Dursun Göknur Haliloğlu Haluk Topaloğlu Kader Karli-Oğuz Tom J De Koning |
| author_facet | Turgay Coşkun Halil Ibrahim Aydin Mustafa Kiliç Ali Dursun Göknur Haliloğlu Haluk Topaloğlu Kader Karli-Oğuz Tom J De Koning |
| author_sort | Turgay Coşkun |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-3e73ba686ccc4429b1387f6fa4b8d401 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2009-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-3e73ba686ccc4429b1387f6fa4b8d4012025-08-20T03:01:12ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212009-12-015163-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizuresTurgay Coşkun0Halil Ibrahim AydinMustafa KiliçAli DursunGöknur HaliloğluHaluk TopaloğluKader Karli-OğuzTom J De KoningUnit of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. 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. https://turkjpediatr.org/article/view/2362 |
| spellingShingle | Turgay Coşkun Halil Ibrahim Aydin Mustafa Kiliç Ali Dursun Göknur Haliloğlu Haluk Topaloğlu Kader Karli-Oğuz Tom J De Koning 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures The Turkish Journal of Pediatrics |
| title | 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures |
| title_full | 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures |
| title_fullStr | 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures |
| title_full_unstemmed | 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures |
| title_short | 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures |
| title_sort | 3 phosphoglycerate dehydrogenase deficiency a case report of a treatable cause of seizures |
| url | https://turkjpediatr.org/article/view/2362 |
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