<unk>  has an autosomal recessive pattern of inheritance. Mutations in the following genes cause<unk> : * BCKDHA () * BCKDHB () * DBT () * DLD () These four genes produce proteins that work together as the branched-chain alpha-keto acid dehydrogenase complex. The complex is essential for breaking down the amino acids leucine, isoleucine, and valine. These are present in some quantity in almost all kinds of food, but in particular, protein-rich foods such as dairy products, meat, fish, soy, gluten, eggs, nuts, whole grains, seeds, avocados, algae, edible seaweed, beans, and pulses. Mutation in any of these genes reduces or eliminates the function of the enzyme complex, preventing the normal breakdown of isoleucine, leucine, and valine. As a result, these amino acids and their by-products build up in the body. Because high levels of these substances are toxic to the brain and other organs, this accumulation leads to the serious medical problems associated with<unk> . This condition has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene – one from each parent – must be inherited to be affected by the disorder. The parents of a child with an autosomal recessive disorder are carriers of one copy of the defective gene, but are usually not affected by the disorder.
Maple syrup urine disease
Urocanic aciduria
Alpha-aminoadipic and alpha-ketoadipic aciduria
Hawkinsinuria
3-Methylglutaconic aciduria
Homocystinuria
Alkaptonuria
2-Hydroxyglutaric aciduria