Alkaptonuria

Alkaptonuria is a rare inherited disorder of metabolism in which the body does not fully process certain amino acids. As a result, a substance builds up that can darken the urine and, over time, affect tissues such as cartilage and joints.

Common causes: it is due to a genetic change passed from parents to children and is usually present from birth, although some manifestations appear later in life.

Signs that may be noticed: a characteristic sign is that the urine turns dark when in contact with air; over the years, joint discomfort or color changes in some areas of the skin may arise.

Which specialist assesses it? In childhood, the pediatrician is the one who guides the initial study and refers to the appropriate area. If you observe signs like these in a family member, it is worth discussing it with a health professional for a careful evaluation.