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November 10, 2022
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.
Beta Ketothiolase Deficiency (BKT, BKD or KUD)
Our first child Poppy was born in November 2009, punctually on her due date. As a resident of California she underwent expanded newborn screening when she was born, but the test came back negative. We proceeded to live the typical life of a family with a new baby, with all the usual joys and hardships, not knowing that Poppy has beta-ketothiolase deficiency (BKT or BKD).
