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 the condition are also unable to produce ketone bodies, substances that help the body store energy, potentially leading to a dangerous amount of organic acids and toxins in the body. Early detection and treatment can often prevent the severe outcomes of this condition. Signs of BKT usually start around 1 year of age, though they can appear from 6 months to 2 years. Early signs include sleeping longer or more often, tiredness, diarrhea, fever, poor appetite, and breathing trouble. Many of these signs may occur when a baby eats foods the body cannot break down. Symptoms can be triggered by long periods of time without eating, illnesses, and infections.

Condition Type:

Core Conditions


Though the exact number of people affected is unknown, beta-ketothiolase deficiency (BKT) is estimated to affect fewer than 1 in 1 million babies.

More Information for Parents:
Also known as:
  • BKT
  • Ketone utilization disorder
  • Mitochondrial acetoacetyl-CoA thiolase deficiency
  • T2 deficiency
  • 2-alpha-methyl-3-hydroxybutyric aciduria
  • 3-alpha-ketothiolase deficiency
  • 3-alpha-ktd deficiency
  • 3-alpha-oxo thiolase deficiency
  • B-ketothiolase deficiency alpha-methylacetoacetic aciduria
  • 3-Ketothiolase deficiency
  • MAT deficiency
  • 3-methyl hydroxybutyric acidemia
  • Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency-potassium stimulated

Core Conditions