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Mol Genet Metab. 2006 May;88(1):90-2. Epub 2006 Feb 8.

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

Author information

1
Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27599, USA. alice_basinger@med.unc.edu

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.

PMID:
16466958
DOI:
10.1016/j.ymgme.2005.12.008
[Indexed for MEDLINE]

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