(or '''Malonic aciduria''') is a condition that prevents the body from converting certain
Fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (
Hypotonia ),
Seizure s,
Diarrhea , vomiting, and low blood sugar (
Hypoglycemia ). A heart condition called
Cardiomyopathy , which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency. This condition is very rare; fewer than 20 cases have been reported; it is inherited in an
Autosomal Recessive pattern.
Mutations in the ''MLYCD''
Gene cause malonyl-CoA decarboxylase deficiency. The ''MLYCD'' gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a certain group of fats called
Fatty Acid s. Many tissues, including heart muscle, use fatty acids as a major source of energy. Mutations in the ''MLYCD'' gene reduce or eliminate the function of malonyl-CoA decarboxylase. A lack of this enzyme disrupts the normal balance of fatty acid formation and breakdown. As a result, fatty acids cannot be converted to energy, which can lead to characteristic features of this disorder such as low blood sugar and cardiomyopathy. Byproducts of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonyl-CoA decarboxylase deficiency.
