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Methylmalonic acidemia

  • 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.

    • 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.