Chromosome Parade #7 – Maple Syrup Urine Disease

About time we moved on in the Chromosome Parade to chromosome 7. The disease gene I’d like to learn more about today is the dihydrolipoamide dehydrogenase (DLD) gene associated with maple syrup urine disease. The DLD gene creates a protein that is part of an enzyme complex which breaks down molecules in the mitochrondria.

Most DLD mutations change single amino acids in the E3 component, which alters the structure of the protein and prevents the BCKD enzyme complex from breaking down valine, isovaline, and leucine. As a result, these amino acids and their byproducts build up in the body. Because this accumulation is toxic to tissues and organs, it leads to the signs and symptoms of maple syrup urine disease.

Infants born with maple syrup urine disease tend to have urine that smells like burnt caramel. These children typically have do not feed well, vomit frequently, are lethargic, and have developmental delays.

Tags: dld gene, maple syrup urine disease, genetics, genes, genome, dna, diseases, illness, health