Beta ketothiolase deficiency


Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. The typical age of onset for this disorder is between 6 months and 24 months.


The signs and symptoms of beta-ketothiolase deficiency include vomiting, dehydration, trouble breathing, extreme tiredness, and occasionally convulsions. These episodes are called ketoacidotic attacks and can sometimes lead to coma. Attacks occur when compounds called organic acids (which are formed as products of amino acid and fat breakdown) build up to toxic levels in the blood. These attacks are often triggered by an infection, fasting (not eating), or in some cases, other types of stress.


Sodium bicarbonate and intravenous fluids are the usual treatment for acidosis; dialysis may be needed. Carnitine supplementation has been helpful in some cases.