Ochronosis – Alkaptonuria and Exogenous
Are You Confident of the Diagnosis? What you should be alert for in the history Alkaptonuria (AKU) is a rare autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase (HGAO). Ochronosis is almost a synonym, but technically describes dark pigment deposits on connective tissue, no matter…
