Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.
Publication
, Journal Article
Basinger, AA; Booker, JK; Frazier, DM; Koeberl, DD; Sullivan, JA; Muenzer, J
Published in: Mol Genet Metab
May 2006
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.
Duke Scholars
Published In
Mol Genet Metab
DOI
ISSN
1096-7192
Publication Date
May 2006
Volume
88
Issue
1
Start / End Page
90 / 92
Location
United States
Related Subject Headings
- North Carolina
- Neonatal Screening
- Male
- Infant, Newborn
- Infant
- Indians, North American
- Humans
- Glutaryl-CoA Dehydrogenase
- Glutarates
- Genetics & Heredity
Citation
APA
Chicago
ICMJE
MLA
NLM
Basinger, A. A., Booker, J. K., Frazier, D. M., Koeberl, D. D., Sullivan, J. A., & Muenzer, J. (2006). Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab, 88(1), 90–92. https://doi.org/10.1016/j.ymgme.2005.12.008
Basinger, Alice A., Jessica K. Booker, Dianne M. Frazier, Dwight D. Koeberl, Jennifer A. Sullivan, and Joseph Muenzer. “Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.” Mol Genet Metab 88, no. 1 (May 2006): 90–92. https://doi.org/10.1016/j.ymgme.2005.12.008.
Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J. Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May;88(1):90–2.
Basinger, Alice A., et al. “Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.” Mol Genet Metab, vol. 88, no. 1, May 2006, pp. 90–92. Pubmed, doi:10.1016/j.ymgme.2005.12.008.
Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan JA, Muenzer J. Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May;88(1):90–92.
Published In
Mol Genet Metab
DOI
ISSN
1096-7192
Publication Date
May 2006
Volume
88
Issue
1
Start / End Page
90 / 92
Location
United States
Related Subject Headings
- North Carolina
- Neonatal Screening
- Male
- Infant, Newborn
- Infant
- Indians, North American
- Humans
- Glutaryl-CoA Dehydrogenase
- Glutarates
- Genetics & Heredity