acadm gene

How does an ACADM gene mutation affect histology?

Mutations in the ACADM gene can lead to medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a disorder that disrupts normal fatty acid metabolism. In a histological context, tissues may exhibit signs of cellular stress due to the accumulation of unmetabolized fatty acids. These include lipid accumulation in the liver and muscle tissues, which can be observed as lipid droplets in histological sections. Over time, this can lead to tissue damage and organ dysfunction.

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