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

Record Number: 
BASI001
Citation: 

Basinger, Alice A., et al. "Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina." Brief communication. Molecular genetics and metabolism 88.1 (2006): 90-92. DOI: 10.1016/j.ymgme.2005.12.008.

Annotation: 

The authors of this study define glutaric acidemia type 1 (GA-I) as "an autosomal recessive disorder of the catabolism of lysine, hydroxylysine, and tryptophan caused by deficiency of glutaryl-CoA dehydrogenase (GCD) (EC 1.3.99.7)" (p. 90). Unless they are treated, 80-90% of children with this disorder will suffer "an abrupt brain injury in early childhood" (p. 90). If infants are diagnosed with GA-1, they will have a 60-90% chance of staying healthy if they follow a careful diet, take riboflavin and and carnitine supplements, and comply strictly with a physician's directives.

The authors observed an increase in frequency of this condition, which they call a "rare, known mutation," among Lumbee children. They state that eight children have been identified with GA-1 by NBS since 1997; of these, three were of full Lumbee heritage and one had one Lumbee parent. Another four children had GA-1 symptoms prior to newborn screening; of these two were of full Lumbee heritage and one had one Lumbee parent.

In this study, the authors tested five patients with GA-1 from four Lumbee families. They extracted DNA from the patients' blood and did PCR amplification and performed sequencing reactions. The article includes a table summarizing the clinical data on each of the five patients. Three of the patients have had brain imaging performed.

Based on their investigations, the authors conclude that:

1. Because the E414K mutation is rare in the U.S., and because E414K/E414k has been identified as the genotype in all of the authors' patients with GA-1, the mutation was probably present in a Lumbee founding group.

2. Since the authors have found five Lumbee children with GA-1 from four families in the past 7 years, this gives an incidence of 1 in 1,000 and a carrier frequency of 1 in 16 among Lumbee people.

3. The authors recommend a community screening program for carriers of GA-1, if the tribal government wishes.

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First Appeared in 1994 Book?: 
no
Publication Type: 
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