Thelansis

  Niemann-Pick disease (NPD) is a lysosomal storage disorder caused by acid sphingomyelinase deficiency (ASMD), which is characterized by the impairment of the enzyme responsible for the hydrolysis of sphingomyelin (SM) to ceramide and phosphocholine. The accumulation of SM and its precursor lipids within lysosomes, primarily in macrophages, leads to lipid-laden macrophages that deposit in various organs, including the liver, spleen, lungs, and brain. NPD leads to clinical symptoms such as hepatosplenomegaly, cytopenias, lung disease, and neurologic symptoms. NPD is classified into four subtypes: A, B, C, and E. The genetic basis of NPD is inherited in an autosomal recessive pattern, meaning that both copies of the gene must have mutations for the disease to manifest. NPD types A and B are caused by missense mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene. NPD type C is caused by mutations in the NPC1 (located on chromosome 18) and NPC2 (located on chromosome 14) ...

 Niemann-Pick disease (NPD) is a lysosomal storage disorder caused by acid sphingomyelinase deficiency (ASMD), which is characterized by the impairment of the enzyme responsible for the hydrolysis of sphingomyelin (SM) to ceramide and phosphocholine. The accumulation of SM and its precursor lipids within lysosomes, primarily in macrophages, leads to lipid-laden macrophages that deposit in various organs, including the liver, spleen, lungs, and brain. This leads to clinical symptoms such as hepatosplenomegaly, cytopenias, lung disease, and neurologic symptoms. NPD is traditionally classified into four subtypes: type A, B, C, and E. The genetic basis of NPD is inherited in an autosomal recessive pattern, meaning that both copies of the gene must have mutations for the disease to manifest. NPD types A and B are caused by missense mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, of which over 180 have been identified. NPD type C is caused by mutations in the NPC1 (locat...