Camptodactyly Taurinuria

Overview

Type of disease: Rare conditions

Camptodactyly – Taurinia is a rare disorder characerized by abnormally high levels of a chemical called taurine in the urine and hand abnormalities. Taurine is a molecule found in blood and urine that plays a role in neurological function. Abnormally high levels of taurine have been found to sometimes cause intellectual disability and seizures. Hence, individuals with this disorder may have problems with reasoning and solving problems, as well as performing day-to-day tasks. The condition is often diagnosed during childhood. Signs like walking and talking late, slow mastering of basic tasks, and having difficulty remembering things may also suggest this condition in children. Treatment is developed on a case-by-case basis and depends on the specific needs of the patient. Doctors may suggest individuals take medication to reduce taurine levels in the body. Doctors seek help from various therapists and community services to provide support and care for families affected by intellectual disability.

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