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Primary carnitine deficiency

(Primary • KAHR-nuh-teen • di-FISH-uhn-see)

General Condition Information

Other Names

  • Carnitine transport defect
  • Carnitine uptake defect
  • Carnitine Uptake Defect & Carnitine Transport Defect
  • Carnitine uptake defect (carnitine transport defect)
  • Carnitine uptake defect/carnitine transport defect
  • Carnitine uptake defect/transport defect
  • Carnitine uptake deficiency
  • Carnitine uptake/transport deficiency

Condition Type

Birth Prevalence

Screening Finding

Decreased C0 and other acylcarnitines

What is primary carnitine deficiency

Primary carnitine deficiency is an inherited (genetic) condition that prevents the body from breaking down certain fats and turning them into energy. 

OCTN2 is a protein in your body that allows a type of fat called fatty acids to be processed. OCTN2 is a special protein that acts as a transporter. It brings a substance called carnitine into your cells. Your body needs carnitine to use or break down fatty acids.

Without enough OCTN2 transporter, your baby's cells do not have enough carnitine. That results in difficulty using fats for energy. This condition can be more or less severe depending on much of the OCTN2 transporter your baby can make.

Breaking down fat for energy allows the 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. If untreated, the lack of energy and increased toxins lead to the signs and symptoms of the condition. Severe cases that are not treated early can result in heart problems, 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
  • People with primary carnitine deficiency must be very careful during illnesses that cause poor appetite, vomiting, or diarrhea. During these illnesses, people with this condition may need emergency care and intravenous (IV) treatments to prevent dangerously low blood sugar levels.

Children who receive early and ongoing treatment for primary carnitine deficiency can have healthy growth and development.

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