Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.
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.
Basinger
Alice A
AA
Department of Pediatrics, University of North Carolina, Chapel Hill, NC 27599, USA. alice_basinger@med.unc.edu
Booker
Jessica K
JK
Frazier
Dianne M
DM
Koeberl
Dwight D
DD
Sullivan
Jennifer A
JA
Muenzer
Joseph
J
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology / Q000235:genetics; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity; D005260:Female; D005977:Glutarates / Q000097:blood*; D050770:Glutaryl-CoA Dehydrogenase / Q000235:genetics*; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D009657:North Carolina / Q000453:epidemiology
D005977:Glutarates; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid