Methylmalonic acidemia
Methylmalonic Acidemia
Methylmalonic acidemia (pronounced meth-ill-ma-lon-ic a-sid-e-mia) is a rare genetic disorder that affects the body's ability to metabolize certain proteins and fats. This condition is characterized by the accumulation of a substance called methylmalonic acid in the body, which can lead to serious health problems.
Etymology
The term "Methylmalonic acidemia" is derived from the name of the substance that accumulates in the body due to the disorder, methylmalonic acid, and the Greek word "haima" meaning blood. The term "acidemia" refers to an abnormal acidity of the blood.
Symptoms
Symptoms of Methylmalonic acidemia can vary widely, but often include Failure to thrive, Developmental delay, Recurrent vomiting, and Metabolic acidosis. In severe cases, the condition can lead to Kidney disease, Pancreatitis, and Neurological damage.
Causes
Methylmalonic acidemia is caused by mutations in the MUT, MMAA, MMAB, or MMADHC genes. These genes provide instructions for making enzymes that are necessary for breaking down certain proteins and fats in the body. Mutations in these genes disrupt this process, leading to the accumulation of methylmalonic acid.
Diagnosis
Diagnosis of Methylmalonic acidemia typically involves Genetic testing to identify mutations in the relevant genes. Other diagnostic tests may include Blood tests to measure levels of methylmalonic acid and Urine tests to detect the presence of abnormal substances.
Treatment
Treatment for Methylmalonic acidemia typically involves a special diet that is low in certain proteins and fats. In some cases, Liver transplant or Kidney transplant may be necessary.
Related Terms
External links
- Medical encyclopedia article on Methylmalonic acidemia
- Wikipedia's article - Methylmalonic acidemia
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