Methylmalonic acidemia

Methylmalonic acidemia
Definition
Methylmalonic acidemia is a disorder, passed down through families, in which the body cannot break down certain proteins and fats. The result is a build up of a substance called methylmalonic acid in the blood.

Methylmalonic acidemia
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What is methylmalonic acidemia?
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly.

Methylmalonic acidemia: This disorder is caused by deficiency of methylmalonyl CoA mutase, which converts methylmalonyl CoA (a product of the propionyl CoA carboxylation) into succinyl CoA.

The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine).

Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched-chain Organic acidemias (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, ...

The Methylmalonic Acidemias ... breathing problems
Thromboembolism ... Pulmonary embolism
Thrombosis ... Pulmonary embolism
Thyroid cancer ... lung cancer
Tobacco smoke associated asthma ... severe breathing difficulty, asphyxia, asphyxia ...

Your doctor may order this test if there are signs of certain genetic disorders, such as methylmalonic acidemia. (Testing for methylmalonic acidemia is often done as part of a newborn screening exam.) ...

See also: Methylmalonic acid, Deficiency, Acidemia, Symptom, Autosomal recessive