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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Basinger, AA; Booker, JK; Frazier, DM; Koeberl, DD; Sullivan, JA; Muenzer, J

Published Date

  • May 2006

Published In

Volume / Issue

  • 88 / 1

Start / End Page

  • 90 - 92

PubMed ID

  • 16466958

International Standard Serial Number (ISSN)

  • 1096-7192

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2005.12.008

Language

  • eng

Conference Location

  • United States