Saturday, February, 11, 2012

Methylmalonic acidemia

Table of Contents

Treatment

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

If supplements do not help, the doctor may also recommend a diet that avoids substances called isoleucine, threonine, methionine, and valine.

Liver or kidney tranplantation (or both) have been shown to help some patients. These transplants provide the body with new cells that help breakdown methylmalonic acid normally.


Support Groups


Expectations (prognosis)

Patient may not survive their first attack.


Complications
  • Coma
  • Death
  • Kidney failure

Calling your health care provider

Seek immediate medical help if a child is having a seizure for the first time. See a pediatrician if your child has signs of failure-to-thrive or developmental delays.



Review Date: 05/12/2009
Reviewed By: 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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)