Xenpozyme: a revelation for Neiman-Pick disease
DOI:
https://doi.org/10.18203/2394-6040.ijcmph20232067Keywords:
Xenpozyme, Neiman-Pick disease, Acid sphingomyelinase deficiencyAbstract
Nieman-Pick disease (NPD) also known as acid sphingomyelinase deficiency (ASMD) is a rare autosomal recessive disorder of lysosomal storage which affects 1 in 250,000 individuals mainly belonging to the Ashkenazi Jew population. The prevalence varies across the three main subtypes where type A and B affects 1 in 40,000 and type C affects 1 in 150,000 individuals, being more prevalent in the French-Acadian descent in the region of Nova Scotia.
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