Medium-chain 3-ketoacyl-coa thiolase deficiency

Alternate 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

Definition

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.

Cause

• In MCKAT deficiency, the medium-chain ketoacyl-CoA thiolase enzyme is not working correctly.
• This enzyme helps the body break down certain fats.
• When the MCKAT enzyme does not work, substances called “medium chain fatty acids” build up in the body.
• The buildup of medium chain fatty acids leads to the signs and symptoms of the condition.

Signs and sympotms

Signs of the condition may include the following:

• Breathing problems
• Vomiting
• Low blood sugar (hypoglycemia)
• Diarrhea
• Weight loss
• Poor appetite

Diagnosis

• Newborn screening for MCKAT deficiency is done using a small amount of blood collected from your baby’s heel.
• During screening, a special machine measures how much of certain substances (called acylcarnitines) are in your baby’s blood.
• Your body produces these substances when it makes energy from fats.
• Babies with high levels of these substances might have MCKAT deficiency.

Treatment

• 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.

NIH genetic and rare disease info

• NIH info on Medium-chain 3-ketoacyl-coa thiolase deficiency

Medium-chain 3-ketoacyl-coa thiolase deficiency is a rare disease.

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