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Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine.
Alkaptonuria (AKU) is an inborn error of metabolism: a genetic disease caused by a lack of the enzyme homogentisate dioxygenase (HGD). Without HGD, patients cannot break down protein to amino acids, such as tyrosine and phenylalanine, which causes a build up of homogentisic acid (HGA) in the bones, cartilage and urine.