Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family

J Inherit Metab Dis. 2006 Aug;29(4):587. doi: 10.1007/s10545-006-0277-0. Epub 2006 Jun 19.

Abstract

We report the clinical, biochemical and molecular findings on the first documented patient with 4-hydroxybutyric aciduria (4-HBA, McKusick 271980) from Uruguay. The patient displayed a severe picture and turned out to be homozygous for a mutation (c.1226G < A) previously shown to be associated with null enzyme activity.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Homozygote
  • Humans
  • Hydroxybutyrates / urine*
  • Infant
  • Male
  • Mutation, Missense
  • Succinate-Semialdehyde Dehydrogenase / deficiency*
  • Succinate-Semialdehyde Dehydrogenase / genetics*
  • Uruguay

Substances

  • Hydroxybutyrates
  • 4-hydroxybutyric acid
  • Succinate-Semialdehyde Dehydrogenase