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Medium-chain ketoacyl-CoA thiolase deficiency

(Medium • chain • KEE-toh-ace-uhl • koh-AY • THIE-o-lace • di-FISH-uhn-see)

General Condition Information

Other Names

  • Medium chain 3-ketoacyl-CoA thiolase deficiency
  • Medium chain ketoacyl-CoA thiolase deficiency
  • Medium-chain 3-ketoacyl-CoA thiolase deficiency
  • Medium-chain keto acyl-CoA thiolase deficiency
  • Medium-chain ketoacyl-CoA thiolase

Condition Type

Birth Prevalence

It is unknown how many babies are born with this rare condition each year in the United States.

Screening Finding

High C6-OH and C8 acylcarnitines with or without high levels of other acylcarnitines

What is medium-chain ketoacyl-coa thiolase deficiency

Medium-chain ketoacyl-CoA thiolase (MCKAT) deficiency is a condition that prevents the body from breaking down certain fats and turning them into energy. If the body does not make enough energy from fat, substances build up in the blood and can cause serious health problems. 

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

The goal of treatment is to prevent the health problems caused by this condition. MCKAT deficiency is so rare that there are no standard treatments. It is important to talk to your health care provider about treatment(s) that are best for your baby.

Date Last Reviewed: