Question

There is symptoms and cause of phenylketonuria (PKU), but another genetic defect in phenylalanine/tyrosine catabolism, homogentisate-1,2-dioxygenase, also causes a disease. What is the disease, associated with which metabolic causes and symptoms? Can the disease be prevented?

Answer 1

Alkaptonuria is the disease associated with a genetic defect in homogentisate-1,2-dioxygenase. It is a metabolic disorder that affects the metabolism of phenylalanine and tyrosine. Symptoms include darkened skin, brown urine, and joint damage. Although there is no cure, symptoms can be managed through treatment options.

Step-by-step explanation:

The disease associated with a genetic defect in homogentisate-1,2-dioxygenase is called alkaptonuria. Alkaptonuria is a metabolic disorder where individuals cannot properly metabolize the amino acids phenylalanine and tyrosine. Symptoms of the disease include darkened skin, brown urine, and joint damage. Unfortunately, there is no cure for alkaptonuria, but symptoms can be managed through treatment options.