Beta-ketothiolase deficiency (?KT)

Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine.

Signs and symptoms typically appear between the ages of six to 24 months. Episodes called ketoacidotic attacks may occur causing symptoms such as vomiting, dehydration, difficulty breathing, extreme lethargy, and occasionally seizures. Infections, fasting, or increased intake of protein rich foods frequently triggers these ketoacidotic attacks. Attacks can also lead to coma.