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