Methylmalonic acidemia

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Overview

Symptoms

Treatment

Prevention

Methylmalonic acidemia

Symptoms:

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

Vomiting
Dehydration
Lethargy
Seizures
Failure to thrive
Recurrent infections with Candida
Progressive encephalopathy
Developmental delays

Signs and tests:

A number of different laboratory and radiology tests may be performed, including:

Serum electrolytes
Blood gas for acidosis
Serum ammonia levels (see ammonia - test )
Serum and urine tests for amino acids and organic acids
Serum methylmalonic acid levels
Enzyme analysis of fibroblasts for the specific enzyme defect
CBC for neutropenia, anemia, and thrombocytopenia
CT scan or MRI of the brain following a seizure

Review Date: 8/1/2005
Reviewed By: Nikheel S. Kolatkar, MD, Clinical and Research Fellow, Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital, Harvard Medical School, Boston, MA. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.