Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases

J Inherit Metab Dis. 2005;28(6):1167-8. doi: 10.1007/s10545-005-4497-5.

Abstract

This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical complications of MAT I/III deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Homocysteine / metabolism
  • Homozygote
  • Humans
  • Hyperhomocysteinemia / complications
  • Hyperhomocysteinemia / diagnosis*
  • Male
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnosis*
  • Methionine / metabolism
  • Methionine Adenosyltransferase / deficiency*
  • Mutation
  • Mutation, Missense

Substances

  • Homocysteine
  • Methionine
  • Methionine Adenosyltransferase