[Vitamin B6 dependency syndrome]

Nihon Rinsho. 1992 Jul;50(7):1581-6.
[Article in Japanese]

Abstract

Many enzymes that require pyridoxal 5'-phosphate (PLP), a coenzyme from a vitamin B6, are involved in amino acid metabolism. B6 dependency syndromes are defined as a group of metabolic disorders which are prevented or alleviated by non-physiologically large doses of vitamin B6, and, hence, they are tacitly accounted for by some structural alteration in a responsible B6-dependent enzyme such as a decrease on the affinity for PLP as compared to the normal. In this article, the mode of binding the coenzyme is exemplified by the case of aspartate aminotransferase, a typical B6-dependent enzyme whose three-dimensional structure is known, and, several B6 dependency syndromes are briefly reviewed. Among these syndromes, the molecular basis of only gyrate atrophy has recently been defined by the identification of a mutation in the relevant enzyme, ornithine aminotransferase.

Publication types

  • English Abstract

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / etiology
  • Amino Acid Metabolism, Inborn Errors / metabolism*
  • Aspartate Aminotransferases / deficiency*
  • Cystathionine / urine
  • Homocystinuria
  • Humans
  • Hyperoxaluria
  • Ornithine / blood*
  • Pyridoxal Phosphate / metabolism
  • Pyridoxine / metabolism
  • Pyridoxine / physiology*

Substances

  • Cystathionine
  • Pyridoxal Phosphate
  • Ornithine
  • Aspartate Aminotransferases
  • Pyridoxine