Methylcrotonyl-CoA carboxylase deficiency ... (3-methylcrotonyl-CoA carboxylase deficiency) - Genes and MCCC2 MCCC1.

Deficiency methylcrotonyl-CoA carboxylase deficiency (3 MCC) is an inherited disorder in which the body is unable to correctly process certain proteins. People with this disease have a deficiency of the enzyme that processes the amino acid leucine.

In general, the signs and symptoms of the disease appear in infancy or early childhood. The characteristic features of this disease, which can range from mild to life - threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, lethargy and hypotonia. If left untreated, the disease can lead to developmental delay, seizures and coma. Many of these complications can be prevented with early detection, a low protein diet and appropriate supplements. Some people never experience signs or symptoms of the disease.

This process is due to mutations in the gene MCCC1, uado sit on the long arm of chromosome 3 (3q27) and MCCC2 gene, located on the long arm of chromosome 5 (5q12 - q13). These two genes encoding subunits of an enzyme called methylcrotonyl-CoA carboxylase 3 (3 - MCC), which plays a critical role in the decomposition of some amino acids. More specifically, this enzyme is responsible for the fourth stage in the processing of leucine, an amino acid that is part of many proteins.

They have identified at least 30 mutations in the gene MCCC1 and more than 40 mutations in the gene MCCC2, causing disease. Mutations in these genes, reduce or eliminate the activity of protein 3 - MCC, preventing the body leucine processed correctly. As a result, toxic byproducts processing leucine accumulate in harmful concentrations that may damage the brain. This damage underlying signs and symptoms of deficiency methylcrotonyl-CoA carboxylase.

This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.

Tests performed in IVAMI: in IVAMI perform detection of mutations associated with deficiency methylcrotonyl-CoA carboxylase, by complete PCR amplification of the exons of MCCC1 and MCCC2 genes, respectively, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).