Treatment with amino acids in serine deficiency disorders.

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.

• Authors: T J de Koning
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) 2006 Apr-Jun Vol. 29 Issue 2-3 Pg. 347-51 ISSN: 1573-2665 [Electronic] United States
• PMID: 16763900 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Amino Acids
• Serine
• Phosphoglycerate Dehydrogenase
• Phosphoric Monoester Hydrolases
• phosphoserine phosphatase
• Glycine

Topics

• Amino Acid Metabolism, Inborn Errors (metabolism, therapy)
• Amino Acids (therapeutic use)
• Animals
• Brain Diseases, Metabolic, Inborn (metabolism, therapy)
• Central Nervous System (metabolism)
• Glycine (therapeutic use)
• Humans
• Phosphoglycerate Dehydrogenase (deficiency, metabolism)
• Phosphoric Monoester Hydrolases (deficiency, metabolism)
• Serine (deficiency, metabolism, therapeutic use)