PPM - Medium-chain Acyl CoA Dehydrogenase Deficiency (MCAD)-Description and References

Description and References

Pdf Summary

Medium-chain Acyl CoA Dehydrogenase Deficiency (MCAD) is a fatty acid oxidation defect that is inherited in an autosomal recessive manner. It is caused by bi-allelic pathogenic variants in the ACADM gene. This condition is commonly identified through newborn screening. MCAD individuals have difficulty metabolizing medium chain fatty acids, which puts them at risk for several serious health complications, including hypoglycemia, liver dysfunction, and coma, especially during periods of prolonged fasting or acute illness.<br /><br />The diagnosis of MCAD is based on characteristic biochemical profiles, and confirmation can be done through molecular genetic testing of the ACADM gene via sequencing. It is important to perform confirmatory testing in newborns who had an abnormal newborn screen suggesting MCADD. Management recommendations for individuals with MCAD include avoiding prolonged fasting, consuming complex carbohydrates before sleeping, and avoiding medium-chain fatty acids. Carnitine supplementation may also be recommended, and monitoring of carnitine levels is important.<br /><br />The module emphasizes the need for follow-up tests, such as plasma acylcarnitine profile, total and free plasma carnitine levels, and urine acylglycine profile, to confirm the diagnosis of MCAD. Molecular genetic testing is also crucial, as biochemical tests may not always distinguish between affected individuals and carriers. The module provides references to additional literature on MCAD for further reading.<br /><br />Overall, this module highlights the importance of early detection and proper management of MCAD to prevent serious health complications in affected individuals.

Keywords

MCAD

fatty acid oxidation defect

ACADM gene

newborn screening

hypoglycemia

liver dysfunction

coma

prolonged fasting

Carnitine supplementation

early detection