Treatment with amino acids in serine deficiency disorders

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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.

Original languageEnglish
Pages (from-to)347-51
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume29
Issue number2-3
DOIs
Publication statusPublished - 10-Jun-2006
Externally publishedYes

Keywords

  • Amino Acid Metabolism, Inborn Errors
  • Amino Acids
  • Animals
  • Brain Diseases, Metabolic, Inborn
  • Central Nervous System
  • Glycine
  • Humans
  • Phosphoglycerate Dehydrogenase
  • Phosphoric Monoester Hydrolases
  • Serine
  • Journal Article
  • Research Support, Non-U.S. Gov't
  • Review

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