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What causes chronic acid sphingomyelinase deficiency (ASMD)?

The cause of chronic acid sphingomyelinase deficiency (ASMD) all comes back to the cells. The cells receive instructions telling them what to do. These instructions are all found in the genes. People get one copy of their genes from their mom and one from their dad. Different genes decide what color people's hair should be, what color their eyes should be, and how tall they should be. This explains why most people look a bit like their mom and a bit like their dad.

Chronic ASMD is a genetic condition. This means there’s a mistake in the gene that tells the cells how to make acid sphingomyelinase. But if people have a mistake in only one copy of the gene, they are a carrier. Carriers don’t have chronic ASMD, but can pass on the copy of the gene with the mistake to their kids. If people have a mistake in both copies of the gene, it means they have chronic ASMD.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.