Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Amino Acid Metabolism, Inborn Errors / metabolism
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Amino Acid Metabolism, Inborn Errors / therapy*
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Amino Acids / therapeutic use*
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Animals
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Brain Diseases, Metabolic, Inborn / metabolism
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Brain Diseases, Metabolic, Inborn / therapy*
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Central Nervous System / metabolism
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Glycine / therapeutic use*
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Humans
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Phosphoglycerate Dehydrogenase / deficiency
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Phosphoglycerate Dehydrogenase / metabolism
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Phosphoric Monoester Hydrolases / deficiency
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Phosphoric Monoester Hydrolases / metabolism
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Serine / deficiency
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Serine / metabolism
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Serine / therapeutic use*
Substances
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Amino Acids
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Serine
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Phosphoglycerate Dehydrogenase
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Phosphoric Monoester Hydrolases
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phosphoserine phosphatase
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Glycine