Free Online Database Of Diseases, Illnesses & Ailments


Methylmalonic acidemia

Methylmalonic acidemia Causes

As an autosomal or inherited disorder, the defect occurs specifically in the metabolic pathway where the enzyme methylmalonyl-CoA mutase converts methylmalonyl-coenzyme A. But because the defect disables effective vitamin B12 metabolism, this doesn't happen. Even when the disorder is not present, a severe deficiency of the vitamin can also trigger the disorder.

Methylmalonic acidemia Definition

This autosomal genetic disorder is also called methylmalonic aciduria and one that particularly affects the body's branched-chain amino acids. It is considered a classical type of academia that is organic in origin.

Methylmalonic acidemia Diagnosis

Diagnosis is accomplished through testing at the newborn stage because screening at this crucial period with accompanying treatment has been shown to be significantly effective. Laboratory tests as tools to diagnose can range from an ammonia test to Methylmalonic acid blood test and Plasma amino acid test.

Methylmalonic acidemia Symptoms and Signs

Appearing in early infancy, the effects or symptoms of the disorder can range from mild to even potentially life-threatening. Infants can experience dehydration, vomiting, hypotonoa, lethargy and may unable to gain proper weight or achieve the appropriate height. These can progress to possible mental retardation, kidney disease and pancreatitis. In some cases, it can lead to coma and even death.

Methylmalonic acidemia Treatment

Effective treatment basically consists of the supplements cobalamin and carnitine as well as undergoing a strictly low-protein diet. In some cases, liver and kidney transplants provides the new cells that can metabolize or break down the acid effectively.

Most Viewed Pages

Recent Searches

Our Visitors Ask About

Medical News