Beta-Ketothiolase Deficiency (BKT)
An Organic Acid Disorder
Beta-Ketothiolase Deficiency is also known as 3-Ketothiolase Deficiency or Mitochondrial
Acetoacetyl-Coa Thiolase Deficiency.
What is it?
Beta-Ketothiolase Deficiency is a disorder in which the body does not properly process a particular amino acid or the products of fat breakdown.
Inheritance
The gene defect for Beta-Ketothiolase Deficiency is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect. Beta-Ketothiolase Deficiency is very rare. Only 50 to 60 cases have been reported worldwide.
Signs & Symptoms
The main symptom of this disorder is recurrent, severe metabolic acidosis.
Long Term Effects
Treatment
Sodium bicarbonate and intravenous fluids are the usual treatment for acidosis; dialysis may be needed. Carnitine supplementation has been helpful in some cases.
History
Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.
Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter your state of residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.
Other Sites of Reference
- A Parent's Guide to Ketone Utilization Disorder {AKA Beta-ketothiolase Deficiency or 3-Ketothiolase Deficiency}
- Genetics Home Reference - 3 Beta-Ketothiolase Deficiency
- OMIM - 3 Ketothiolase Deficiency (2-Methylacetoacetyl-CoA Thiolase Deficiency)
Support
Groups
Organic Acidemia Association
13210 35th Avenue
Plymouth, MN 55441
Contact Person: write to Kathy Stagni
Phone: (763) 559-1797
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