Methylmalonic Acidemia

What Is Methylmalonic Acidemia?

Methylmalonic Acidemia is an inherited medical condition in which the body is unable to process certain proteins and fats causing a variety of complications. These complications, which may be observed pretty soon after brth, may be mild to even potentially life threatening. Some of the features of Methylmalonic Acidemia are vomiting, severe dehydration, muscle weakness, hypotonia, developmental delays, and lethargy along with medical complications like hepatomegaly and failure to thrive. Some of the long term complications are feeding difficulties, chronic kidney dysfunction, and pancreatitis. If Methylmalonic Acidemia is left untreated, it can lead to coma and sometimes even death.

What Is Methylmalonic Acidemia?

What Are The Causes Of Methylmalonic Acidemia?

Methylmalonic Acidemia can be observed within the first year of life. Methylmalonic Acidemia is an autosomal recessive trait meaning that the defective gene needs to be passed from both the parents. This condition affects both males and females equally.

What Are Some Of The Symptoms Of Methylmalonic Acidemia?

Some Of The Symptoms Of Methylmalonic Acidemia Are:

  • Progressive encephalopathy
  • Severe dehydration
  • Developmental problems
  • Failure to thrive
  • Extreme lethargy
  • Repeated infections
  • Seizures
  • Vomiting.

How Is Methylmalonic Acidemia Diagnosed?

Methylmalonic Acidemia can be detected as a part of the screening of the newborn and has been recommended by the health department in the United States as early treatment for Methylmalonic Acidemia is found to be significantly beneficial.

Some Of The Tests That Are Done To Diagnose Methylmalonic Acidemia Are:

  • Testing for Ammonia
  • Testing blood gases
  • CBC
  • CT scan of brain
  • MRI of brain
  • Checking electrolytes
  • Genetic testing
  • Methylmalonic Acid test.

What Are Treatments For Methylmalonic Acidemia?

Generally cobalamin and carnitine supplements are given for Methylmalonic Acidemia. The child is also given a low-protein diet. The child needs to avoid mild and poultry products, meat etc. which are rich in proteins.

Liver/kidney transplantation has shown to be beneficial in some instances as the transplantation provides new cells in the body which can help break down methylmalonic acid in a normal fashion.

Prognosis And Complications Of Methylmalonic Acidemia

The overall prognosis for Methylmalonic Acidemia is extremely guarded and the infant may not be able to survive even the first attack.

Some Of The Complications Of Methylmalonic Acidemia Are:

Also Read:

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: July 22, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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