Molecular genetic testing for MCAD mutations usually is offered as confirmatory testing after the initial diagnosis by biochemical testing. In addition, carrier testing for MCAD deficiency cannot be performed using biochemical metabolite profiles and must be done by molecular genetic testing or by direct assay of MCAD activity in cultured fibroblasts.
MCAD deficiency is a disease that can be treated if promptly diagnosed in the early postnatal period. Precautions, such as avoidance of fasting and saturated fats and ingestion of carbohydrates prior to bedtime, can eliminate the symptoms and related complications of the disease. Although prenatal diagnosis on chorionic villus sampling or cultured amniocytes using biochemical or molecular genetic testing, or both, is possible, with the inherent risks of the procedures, it may offer no advantage to postnatal testing of acylcarnitines and other metabolites character istic of the disease. Therefore, genetic counseling and discussion of the issues related to this disease are warranted when prenatal testing is being considered.
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