ALPK1

ALPK1, also known as alpha-ketoglutarate-dependent dioxygenase alkB homolog 1, is a gene located on chromosome 19q13.3 in humans. It encodes a protein that belongs to the alpha-ketoglutarate-dependent dioxygenase family, which is involved in the metabolism of amino acids and other small molecules. The ALPK1 protein plays a role in the degradation of branched-chain amino acids, particularly leucine, and is expressed in various tissues, including the liver, kidney, and brain.

Mutations in the ALPK1 gene have been associated with a rare genetic disorder called maple syrup urine disease (MSUD), also known as isoleucine deficiency. MSUD is a metabolic disorder that affects the body's ability to break down certain amino acids, leading to the accumulation of toxic substances in the blood and urine. Symptoms of MSUD can include poor growth, developmental delays, and neurological problems. The diagnosis of MSUD is typically confirmed through genetic testing, which identifies mutations in the ALPK1 gene.

Research on the ALPK1 gene and its encoded protein continues to advance our understanding of amino acid metabolism and the underlying mechanisms of related disorders. Ongoing studies aim to develop targeted therapies for MSUD and other conditions associated with ALPK1 mutations, potentially improving the quality of life for affected individuals.