(BKD) Mitochondrial Acetoacetyl CoA Thiolase - (3-Ketothiolase)
Also known as Ketone Utilization Disorder or KUD
Beta-ketothiolase deficiency is an uncommon inherited disorder in which the body cannot properly process a particular amino acid (a building block of proteins) or the products of fat 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. more >>
- Parent Fact Sheet on BKD by STAR-G/HRSA
- Ketone Utilization Disorder Parent Guide by PacNoRGG
- Ketone Utilization Disorder Parent Guide in Spanish by PacNoRGG
- OMIM - BETA-KETOTHIOLASE DEFICIENCY
- Beta Ketothiolase Deficiency From Orphanet
Meet our children with 3-Ketothiolase Disorder
