Tag Archives: tyrosine metabolism

Understanding the rare disease alkaptonuria: the role of oxidative stress, inflammation and amyloidosis

Alkaptonuria (AKU) is an ultra-rare disease that was recognized among the first inborn errors of metabolism. In AKU, an altered activity of the enzyme homogentisate 1,2-dioxygenase (HGD) occurring upon gene mutation lead to a defective metabolism of