Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina

Mol Genet Metab. 2006 May;88(1):90-2. doi: 10.1016/j.ymgme.2005.12.008. Epub 2006 Feb 8.

Abstract

Glutaric acidemia type I (GA-I) is an autosomal recessive disorder of the catabolism of lysine, hydroxylysine, and tryptophan caused by deficiency of glutaryl-CoA dehydrogenase (GCD). Among our patients with GA-I, we noted a prevalence of Lumbee individuals. The Lumbee are a close-knit Native American tribe of eastern North Carolina. Five Lumbee individuals with GA-I had homozygous 1240G>A mutations in GCD. This is a rare, known mutation that was likely introduced by a Lumbee founder.

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / epidemiology
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Substitution
  • Child
  • Child, Preschool
  • Ethnic Groups
  • Female
  • Glutarates / blood*
  • Glutaryl-CoA Dehydrogenase / genetics*
  • Humans
  • Indians, North American / genetics
  • Infant
  • Infant, Newborn
  • Male
  • Neonatal Screening
  • North Carolina / epidemiology

Substances

  • Glutarates
  • Glutaryl-CoA Dehydrogenase
  • glutaric acid