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Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is an inherited disorder of fatty acid metabolism caused by mutations in the MCAD gene. Individuals with MCAD are at risk for hypoglycemia during times of illness or prolonged fasting. Diagnosis is made using blood acylcarnitine profile, urine organic acids and mutation analysis. MCAD deficiency is estimated to affected 1/10 000 – 1/15 000 individuals and is included in the Washington State newborn screening program. This test will identify >97% of sequence variants in the coding region and splice junctions. Large deletions, duplication or mutations in the promoter region cannot be detected by this analysis.
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