Beta-ketothiolase deficiency (BKT)

 

Beta-ketothiolase deficiency (BKT) is an inherited condition in which the body is unable to break down certain proteins. People with BKT are also unable to produce ketone bodies, substances that help the body store energy. BKT is an organic acid condition because it can lead to a dangerous amount of organic acids and toxins in the body. BKT can cause episodes of vomiting, dehydration, difficulty breathing, extreme tiredness, and sometime seizures. These episodes can sometimes lead to coma. Early detection and treatment can often prevent the severe outcomes of BKT.

This condition is also known by several other names: ketone utilization disorder, mitochondrial acetoacetyl-CoA thiolase deficiency, T2 deficiency, 2-alpha-methyl-3-hydroxybutyricacidemia, 3-alpha-ketothiolase deficiency, 3-alpha-ktd deficiency, 3-alpha-oxothiolase deficiency, B-ketothiolase deficiency alpha-methylacetoacetic aciduria, 3-Ketothiolase deficiency, MAT deficiency, 3-methylhydroxybutyric academia, mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated, BKD.

For more information about Beta-ketothiolase deficiency, visit Baby's First Test: Beta-ketothiolase deficiency and Screening, Technology, and Research in Genetics (STAR-G): Beta ketothiolase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Pediatric Metabolic Providers for a listing of medical specialists and clinic contact information.