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

Treatment consists of dietary supplementation with cobalamin, carnitine, and protein restriction.

If cobalamine supplementation doesn't help, a diet restricting isoleucine, threonine, methionine, and valine may be useful.

Unfortunately, affected patients may not survive their first attack.

• Coma
• Death

Parents or care-givers of a child with a first seizure should immediately seek medical attention. Infants with failure-to-thrive or developmental delays should see a pediatrician. Adults and children with strokes or acute mental status changes should seek immediate medical attention.

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.