Duke Health researchers have discovered the cause of Glutaric Aciduria Type I (GA-1), a metabolic disease common among people with Lumbee and other Native American heritage. Previously, the condition was described as toxic substances produced in the brain, but the Duke researchers have found that the substances are the result of the breakdown of an essential amino acid called lysine, which accumulates in the liver and crosses the blood-brain barrier. The toxic build-up of glutaric acid in the brain causes nerve damage, leading to potentially fatal neurological problems. Current treatments include a low-protein diet, which has limited success, and potentially life-saving early diagnosis. However, the benefits are concentrated in Amish- and Irish-heritage children who have historically had better access to healthcare services than Native Americans, leading to health disparities. The researchers were able to cure the condition in mice with either a liver transplant or CRISPR gene-editing technology, and other liver-targeted gene therapies may also be effective. The researchers suggest that with a better understanding of the disease, more efficient and convenient therapies can be developed. GA-1 can be identified during newborn screenings, but it is not included in all states’ screening panels, leading to missed diagnoses.

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