Combined carboxylase deficiency is a rare and inherited metabolic disorder that affects the body's ability to break down certain amino acids and fatty acids. It is characterized by a deficiency in the activity of two enzymes called biotin-dependent carboxylases, which are essential for various metabolic processes.
The condition is caused by mutations in the genes responsible for producing these enzymes. As a result, the affected individuals have inadequate levels of biotin, a vitamin that plays a crucial role in the function of carboxylases. Without sufficient biotin, the carboxylase enzymes are unable to properly carry out their metabolic functions.
The deficiency of biotin-dependent carboxylases leads to the accumulation of toxic substances in the body, such as organic acids and ammonia. This can cause a wide range of symptoms, including poor growth, loss of appetite, lethargy, seizures, developmental delay, skin rashes, and breathing difficulties.
Combined carboxylase deficiency is typically diagnosed in infancy or early childhood through blood tests that measure the levels of enzymes and metabolites associated with the disorder. Treatment involves the lifelong administration of high-dose biotin supplements, which help to restore the activity of the carboxylase enzymes and reduce the accumulation of toxic substances.
Early detection and prompt treatment are crucial for managing the symptoms and preventing long-term complications in individuals with combined carboxylase deficiency. With appropriate medical care and close monitoring, affected individuals can lead relatively normal lives and manage the metabolic aspects of the disorder effectively.
