Definition:
Malonic aciduria is a rare genetic condition marked by a deficiency of the enzyme Malonyl-CoA decarboxylase bringing about impairment in the body's ability to convert fatty acids into energy, which can be used by muscles like muscles in the heart. Because of this occurrence, fatty acids tend to accumulate in the body since they are not metabolized.
The deficiency in Malonyl-CoA decarboxylase interrupts the normal balance of fatty acid breakdown and formation.
This condition is also known as Malonyl-CoA decarboxylase deficiency.
Symptoms and Signs:
Symptoms of malonic aciduria usually appear in early childhood; generally related to delayed development in many aspects of growth. The following are some additional significant symptoms that may indicate Malonic Aciduria:
* Hypotonia or weak muscle tone
* Diarrhea
* Seizure
* Vomiting
* Hypoglycemia or low blood sugar level
* Cardiomyopathy, a heart condition causing heart muscle weakening and enlargement
* High urine levels of Malonic acid
Causes:
Malonic Aciduria is an inherited autosomal recessive disorder caused by mutations in the MLYCD (malonyl-CoA decarboxylase) gene. These mutations cause reduction or elimination of the function of malonyl-CoA decarboxylase enzyme. As a result, fatty acids are not converted into energy and tend to accumulate in bodily tissues producing the symptoms of Malonic Aciduria.
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