ArticleMolecular genetics and metabolism reports2026
A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient.
Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with multisystemic involvement. We report a 68-year-old asplenic man with late-onset ASMD and severe interstitial lung disease, chronic respiratory failure, and markedly reduced diffusion capacity. Treatment with olipudase alfa resulted in significant clinical, functional, and biomarker improvement despite advanced age and disease severity. This case supports the benefit of enzyme replacement therapy in patients with complex, late-presenting ASMD.
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