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3-hydroxyacyl-CoA dehydrogenase deficiency

(3 • hie-DRAHK-see-ace-uhl • koh-AY • dee-hie-DRAH-juh-nace • di-FISH-uhn-see)

General Condition Information

Other Names

  • 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency
  • Medium / Short-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency
  • Medium/short chain 3 hydroxyacyl CoA dehydrogenase deficiency
  • Medium/Short Chain 3-OH Acyl CoA Dehydrogenase Deficiency
  • Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase
  • Medium/short chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
  • Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Medium/short-chain hydroxy acyl-CoA dehydrogenase deficiency
  • Medium/short-chain hydroxyacyl-CoA dehydrogenase deficiency
  • Medium/short-chain L-3-hydroxy ACYL-CoA dehydrogenase deficiency
  • Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency
  • Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
  • Medium/short-chain L-3-OH acyl-CoA dehydrogenase deficiency
  • Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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 C4-OH acylcarnitine

What is 3-hydroxyacyl-coa dehydrogenase deficiency

3-Hydroxyacyl-CoA dehydrogenase deficiency is an inherited (genetic) condition that prevents the body from breaking down certain fats and turning them into energy.

3-Hydroxyacyl-CoA dehydrogenase is an enzyme in your body that processes types of fat called short-chain fatty acids and medium-chain fatty acids. This enzyme helps break down these fatty acids so your body can use them or get rid of them.

Without enough working 3-hydroxyacyl-CoA dehydrogenase enzyme, the body has trouble using fats for energy. This condition can be more or less severe depending on how much of the enzyme your baby can make.

Breaking down fat for energy allows your body to work properly, and it is especially important after a long time without food (fasting) and during illness. If your body does not make enough energy from fat, blood sugar levels can become dangerously low.

When fats are not processed, waste (including toxins) can build up and damage your liver, heart, and muscles. Insulin, a protein that helps keep blood sugar at a normal level, also builds up.

If untreated, the lack of energy, high insulin, and increased toxins lead to the signs and symptoms of the condition. Severe cases that are not treated early can result in coma or death.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

  • Regular and frequent meals and snacks
  • Diet high in carbohydrates and low in fat
  • L-carnitine supplements to help the body break down fats
  • Medications to help lower insulin to a normal level (in some cases)

Even with treatment, some children may still have high insulin levels, low blood sugar levels, or problems with their heart or liver.

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