| Type A | Severe infantile neurovisceral form with early death |
| Type B | Chronic visceral form with survival into adulthood, limited CNS involvement |
| Type C | Chronic neurodegenerative form with variable age of onset |
| Type D | Now recognized as a variant of type C, specific to Nova Scotia population |
| Acid Sphingomyelinase Deficiency (ASMD) | Caused by SMPD1 gene mutations, resulting in deficient acid sphingomyelinase activity |
| Niemann-Pick Disease Type C (NPC) | Caused by NPC1 or NPC2 gene mutations, resulting in impaired intracellular cholesterol trafficking |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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