Methylmalonic acidemia

• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z

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

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: 08/01/2005
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.