Methylmalonic acidemia

Definition of Methylmalonic acidemia

Methylmalonic acidemia is a disorder, passed down through families, in which the body cannot break down certain proteins and fats. The result is a build up of a substance called methylmalonic acid in the blood.

Causes, incidence, and risk factors

The disease is usually diagnosed in the first year of life. It is an autosomal recessive disorder, which means the defective gene must be passed onto the child from both parents.

Symptoms

The disease can cause seizures and stroke. Babies may appear normal at birth, but develop symptoms once they start eating more protein, which can cause the condition to get worse.

Signs and tests

Testing for methylmalonic acidemia is often done as part of a . The U.S. Department of Health and Human Services recommends screening for this condition at birth because early detection and treatment has been shown to be beneficial.

Treatment

Treatment consists of cobalamin and carnitine supplements and a low-protein diet. The child’s diet must be carefully controlled.

Expectations (prognosis)

Patient may not survive their first attack.

Review

Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 5/12/2009

ADAM Medical Encyclopedia

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