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 Americ...

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Veröffentlicht in:	Molecular genetics and metabolism 2006-05, Vol.88 (1), p.90-92
Hauptverfasser:	Basinger, Alice A., Booker, Jessica K., Frazier, Dianne M., Koeberl, Dwight D., Sullivan, Jennifer A., Muenzer, Joseph
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Metabolism, Inborn Errors - epidemiology Amino Acid Metabolism, Inborn Errors - genetics Amino Acid Substitution Child Child, Preschool Ethnic Groups Female Glutarates - blood Glutaric academia type 1 Glutaryl-CoA Dehydrogenase - genetics Humans Inborn error of metabolism Indians, North American - genetics Infant Infant, Newborn Lumbee Male Mutation analysis Neonatal Screening Newborn screening North Carolina - epidemiology
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Zusammenfassung:	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 1240 G > A mutations in GCD. This is a rare, known mutation that was likely introduced by a Lumbee founder.
ISSN:	1096-7192 1096-7206
DOI:	10.1016/j.ymgme.2005.12.008