Treatment with amino acids in serine deficiency disorders

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):347-51. doi: 10.1007/s10545-006-0269-0.

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

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • 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*

Substances

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