Niemann-Pick Disease, Types A & B
Pathogenesis (Sphingolipid Disorder)
- Sphingomyelinase deficiency in lysosomes results in failure of sphingomyelin (a fat (lipid)) conversion to ceramide, which leads to toxic accumulation of sphingomyelin in lysosomes, which results in widespread organ damage: brain, lungs, spleen, and liver.
Clinical
- Onset: Type A – Infancy, Type B – Early Childhood
- Neurological manifestations: Pyschomotor Retardation. Cherry-red spot in retina. Type A more severe than Type B.
- Systemic manifestations: Hepatosplenomegaly and Interstitial Lung Disease
Genetics
- SMPD1 gene mutation, Spingomyelinase
- Autosomal recessive
- Ashkenazi Jewish Population
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov