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Mitochondrial Acetoacetyl CoA Thiolase - (3-Ketothiolase)
(BKD) 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 >>
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