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Alkaptonuria (AKU) is a rare inherited metabolic disorder caused by an abnormality in the breakdown of the amino acids tyrosine and phenylalanine. It is an important example of an inborn error of metabolism in human genetics. The disorder is characterized by the accumulation of homogentisic acid in the body, which is normally converted into other substances through a metabolic pathway. When this pathway is defective, homogentisic acid accumulates and is excreted in urine and deposited in connective tissues. Alkaptonuria is caused by mutations in the HGD gene, located on the long arm of chromosome 3 (3q13.33). This gene provides instructions for producing the enzyme homogentisate 1,2-dioxygenase (HGD). The enzyme is involved in the degradation of homogentisic acid. Mutations in the HGD gene reduce or _______ ___ ________ _______ ____ ______ ______ __________ _________.
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