Beta-ketothiolase deficiency (BKT)


Beta-ketothiolase deficiency (BKT) is an inborn error of metabolism, an inherited condition in which an enzyme, mitochondrial acetoacetyl-CoA thiolase, in the body is either missing or not working well. In people with BKT deficiency, the body has difficulty breaking down the amino acid isoleucine (a part of protein) and also has difficulty processing ketone bodies (substances the body makes when fat is broken down for energy). BKT deficiency is an organic acid condition because it can lead to the build-up of harmful amounts of organic acids and toxins in the body. Symptoms of BKT deficiency can vary and may include vomiting, breathing problems, dehydration, extreme tiredness/lethargy and/or other potential signs and symptoms, such as seizures. Illnesses or infections, going too long without food, or eating large amounts of protein are some examples of circumstances that could also trigger symptoms of BKT deficiency. Management often includes a special diet and/or medication/supplements, other special precautions and emergency management recommendations. Support groups are available to help connect families living with BKT deficiency with others who have experience or expertise with this condition.

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. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.