Treatment with amino acids in serine deficiency disorders

Summary Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L‐serine. At present two disorders have been reported: 3‐phosphoglycerate dehydrogenase deficiency and 3‐phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2006-04, Vol.29 (2-3), p.347-351
Main Author: Koning, T. J.
Format: Article
Language:English
Subjects:
Amino Acid Metabolism, Inborn Errors - metabolism
Amino Acid Metabolism, Inborn Errors - therapy
Amino Acids - therapeutic use
Animals
Brain Diseases, Metabolic, Inborn - metabolism
Brain Diseases, Metabolic, Inborn - therapy
Central Nervous System - metabolism
Glycine - therapeutic use
Humans
Phosphoglycerate Dehydrogenase - deficiency
Phosphoglycerate Dehydrogenase - metabolism
Phosphoric Monoester Hydrolases - deficiency
Phosphoric Monoester Hydrolases - metabolism
Serine - deficiency
Serine - metabolism
Serine - therapeutic use
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Summary:Summary Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L‐serine. At present two disorders have been reported: 3‐phosphoglycerate dehydrogenase deficiency and 3‐phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3‐phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L‐serine, sometimes combined with glycine. In this paper the current practice of amino acid treatment with L‐serine and glycine in serine deficiency is reviewed.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-006-0269-0