MCAD Deficiency
MCAD Deficiency, or Medium-Chain Acyl-CoA Dehydrogenase Deficiency, is a genetic disorder that affects the body's ability to break down certain fats. This condition is caused by mutations in the ACADM gene, which is essential for metabolizing medium-chain fatty acids. When the body cannot process these fats, it can lead to a buildup of toxic substances and result in various health issues.
Individuals with MCAD Deficiency may experience symptoms such as hypoglycemia, lethargy, and vomiting, especially during periods of fasting or illness. Early diagnosis through newborn screening and proper dietary management can help prevent serious complications, allowing those affected to lead healthy lives.