Olipudase alfa enzyme replacement therapy. One-year outcomes in an adult patient with acid sphingomyelinase deficiency type B

Introduction: Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive lysosomal storage disorder caused by variants in the SMPD1 gene, leading to a deficiency in the activity of sphingomyelinase (ASM) that catabolizes sphingomyelin (SPM). ASMD Type B is a late-onset, severe disease characterized by progressive hepatosplenomegaly, gradual deterioration of liver and pulmonary function, osteopenia and an atherogenic lipid profile. Olipudase alfa is a recombinant human ASM enzyme replacement therapy indicated for the treatment of non-C-NS manifestations of ASMD.

Palavras-chave

Acid Sphingomyelinase Deficiency (ASMD) Lysosomal Storage Disorder Olipudase Alfa Doenças Genéticas

URI

http://hdl.handle.net/10400.18/10851

Coleções

DGH - Posters/abstracts em congressos internacionais

Licença CC

cclicense-by-nc-nd

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