acid sphingomyelinase deficiency(English)

• a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically classified as Niemann-Pick disease types A and B. The clinical phenotype and life expectancy of patients with type B may vary widely. Almost all patients have hepatosplenomegaly and an atherogenic lipid profile, and most patients have interstitial lung disease with progressive impairment of pulmonary function and hematologic abnormalities including cytopenias
• SMPD1, NPD
• Congenital disorders, Disability, Metabolism
• https://doi.org…3023-017-0572-x