NiemanniPicki
Niemann-Pick disease, sometimes encountered in nonstandard spellings as Niemanni-Picki, is a group of inherited lysosomal storage disorders characterized by the abnormal accumulation of lipids within cells. The best-described forms are Niemann-Pick disease type A and type B, caused by mutations in the SMPD1 gene which encodes acid sphingomyelinase (ASM); this condition is also known as acid sphingomyelinase deficiency (ASMD). A separate form, Niemann-Pick disease type C (NPC), is due to defects in cholesterol trafficking with mutations in NPC1 or NPC2 genes and presents through a different clinical pathway.
ASMD (types A and B) results from reduced ASM activity, leading to sphingomyelin buildup in macrophages and
Diagnosis relies on biochemical and genetic testing. ASM activity measurements in blood or fibroblasts support ASMD,
Treatment is supportive and multidisciplinary. For ASMD, enzyme replacement therapy with olipudase alfa has been approved