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What happens inside the cells of someone with chronic ASMD?

In chronic acid sphingomyelinase deficiency (ASMD), there is not enough of one particular enzyme called sphingomyelinase. Its job is to break down sphingomyelin, found in the body’s cells, especially in the lining of the cells. Without enough of the enzyme sphingomyelinase, sphingomyelin can’t be recycled, and it builds up inside the cells. As the sphingomyelin builds up, the cells swell up.

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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.