Alkaptonuria

 Alkaptonuria is a rare genetic disease caused by a deficiency in the enzyme homogentisate oxidase, which is responsible for the metabolism of homogentisic acid. It is caused by alterations in the HGD gene.

When homogentisic acid accumulates in the body, it is excreted in the urine, resulting in a color.

Symptoms

The main symptoms are: dark urine after exposure to air, hyperpigmented spots on the skin and sclera, and arthritis. The condition can also lead to changes in the heart valves.

Diagnosis

Urinary tests can identify the presence of homogentisic acid. Genetic testing can confirm the diagnosis.

Treatment

There is no cure for the condition. Treatment consists of symptom management and, in some cases, a protein-restricted diet. With proper monitoring and management of complications, the prognosis is good.

The monitoring of these patients by a multidisciplinary team of professionals familiar with the condition is essential.

Services for people with alkaptonuria and rare diseases

If you have already been diagnosed with alkaptonuria or a rare disease, or if you have symptoms and/or characteristics of a pathology, contact Casa Hunter. The institution will assist you from obtaining a correct and specific diagnosis to defending your rights with the SUS and/or health plans, ensuring quality treatment.

Casa Hunter has a team of qualified professionals and a department specialized in administrative processes that seek access to your rights. The service is free of charge.