Alkaptonuria is one of the four initially identified inborn errors of metabolism. The defect in this disease lies in the improper catabolism of the amino acids tyrosine and phenylalanine. This in turn, leads to the build up of homogentisic acid (HGA), a metabolic product of phenylalanine degradation.
Zouheir Habbal et al (2013) described a patient with both alkaptonuria and Pompe Disease. He was found to have three polymorphisms in exons 4, 5, and 6 of the HGD gene.
Al-Shamsi et al. (2014) calculated the birth prevalence of Alkaptonuria to be less than 0.98 per 100,000 live births