Methylmalonic Aciduria

Methylmalonic Aciduria

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About Methylmalonic Aciduria:

Methylmalonic aciduria is also known as methylmalonic acidemia. It is an inherited disorder that makes your body unable to process some proteins. The diseases manifest themselves between the ages of 1 month to 12 months. Its effects range from mild to severe when the proteins are not broken; instead, they build up, affecting the liver, kidneys, brain and other organs of the patient.

Methylmalonic Aciduria Symptoms
Vomiting, Slow development, Dehydration, Extreme tiredness, and poor feeding.
Delayed treatment may cause the patient to get into a coma and, in the extreme, may cause death.

Methylmalonic Aciduria Causes
Methylmalonic aciduria is caused by mutation of MMAA, MMADHC, MMUT, MMACHC, MCEE, and MMAB.
A higher percentage of MMA cases are a result of mutation of the MMUT gene. Mutation of this gene prevents the release of functional enzymes resulting in two conditions; the less severe mut form and the mut0 form, which is more severe.
The methylmalonic CoA mutase to function well requires proteins produced by MMAA, MMAB, and MMADHC.
To Find out Whether a Patient Has MMA, several tests have to be carried out and also to determine the extent of the effects on the patient.

Methylmalonic Aciduria Treatment
Screening of newborns can tell whether a child has MMA.
The degree of C3 acylcarnitine indicates a positive result of the disorder. However, if several other tests are done, it should show an elevation in methyl citrate and methylmalonic acid.
To treat MMA, a strict protein diet with a supplement of PA – precursor amino acid.