Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency : Outcome of treatment with amino acids
(2002) In Journal of Inherited Metabolic Disease 25(2). p.119-125- Abstract
Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow-up data of amino acid therapy in five patients treated for 3-7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. Amino... (More)
Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow-up data of amino acid therapy in five patients treated for 3-7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. Amino acids were well tolerated and no adverse effects were documented. A progress of psychomotor development was only observed in one patient, diagnosed early and treated with a high dosage of L-serine. A favourable outcome of 3-PGDH deficiency depends on early diagnosis and treatment.
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- author
- De Koning, T. J. LU ; Duran, M. ; Maldergem, L. Van ; Pineda, M. ; Dorland, L. ; Gooskens, R. ; Jaeken, J. and Poll-The, B. T.
- publishing date
- 2002-07-09
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Journal of Inherited Metabolic Disease
- volume
- 25
- issue
- 2
- pages
- 7 pages
- publisher
- Springer
- external identifiers
-
- scopus:0035987979
- pmid:12118526
- ISSN
- 0141-8955
- DOI
- 10.1023/A:1015624726822
- language
- English
- LU publication?
- no
- id
- bb895194-f044-487b-8365-f27067dac6a1
- date added to LUP
- 2020-03-03 19:11:17
- date last changed
- 2024-01-02 07:02:56
@article{bb895194-f044-487b-8365-f27067dac6a1,
abstract = {{<p>Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow-up data of amino acid therapy in five patients treated for 3-7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. Amino acids were well tolerated and no adverse effects were documented. A progress of psychomotor development was only observed in one patient, diagnosed early and treated with a high dosage of L-serine. A favourable outcome of 3-PGDH deficiency depends on early diagnosis and treatment.</p>}},
author = {{De Koning, T. J. and Duran, M. and Maldergem, L. Van and Pineda, M. and Dorland, L. and Gooskens, R. and Jaeken, J. and Poll-The, B. T.}},
issn = {{0141-8955}},
language = {{eng}},
month = {{07}},
number = {{2}},
pages = {{119--125}},
publisher = {{Springer}},
series = {{Journal of Inherited Metabolic Disease}},
title = {{Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency : Outcome of treatment with amino acids}},
url = {{http://dx.doi.org/10.1023/A:1015624726822}},
doi = {{10.1023/A:1015624726822}},
volume = {{25}},
year = {{2002}},
}