Alkaptonuria Report

Alkaptonuria Genetic alterations affecting the HGD gene, encoding an enzyme involved in the degradation of tyrosine and phenylalanine, determine a rare metabolic disorder characterized by ochronosis, cardiac, renal, bone and neurological complications. 1 genes analyzed It is recommended if: This panel is useful for those with a suspected diagnosis of AKU, such as darkly pigmented urine and some body areas. Also useful for knowing your carrier status and identifying family members at risk. List of main conditions: Alkaptonuria