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Malonyl-CoA Decarboxylase Deficiency
MLYCD gene
Malonyl-CoA decarboxylase (MCD) deficiency is a rare inborn error of metabolism that affects ß-oxidation of fatty acids. At this time, over 20 patients with this condition have been reported. Symptoms of MCD deficiency include metabolic acidosis, hypoglycemia, hypotonia, seizures, developmental delay and cardiomyopathy. Patients with no or only mild developmental delay have been described as has a patient with significant structural brain abnormalities. Identification of MCD deficiency may increase as a result of tandem mass spectrometry-based newborn screening. In two reports of 8 and 9 patients with MCD deficiency, mutation analysis identified mutations on 16/16 and 16/18 MLYCD alleles respectively.
Mutation analysis of the MLYCD gene is performed on genomic DNA from the submitted specimen using bi-directional sequence analysis of exons 1-5 and corresponding intron/exon boundaries. If sequencing identifies a mutation on only one allele of the MLYCD gene, and if clinically indicated, reflex deletion/duplication testing (ExonArrayDx) will be performed at no additional charge to evaluate for a deletion/duplication of one or more exons of this gene. Mutations found in the first person of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis or another appropriate method.
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