ACID SPHINGOMYELINASE DEFICIENCY: A REVIEW

Adarsh G. S.*, Prakash K. Wari, Preeti V. Kulkarni, Vinod Ratageri, Shivanand I. and Siddappa F. D.

ABSTRACT

Niemann-Pick disease (NPD)/ Acid Sphingomyelinase Deficiency (ASMD) is caused by deficiency of an enzyme acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other lipids in reticuloendothelial cells of various organs like liver, spleen, bone marrow, lymph node, brain, nerves and kidney. It is a lysosomal storage disease (LSD), caused by an autosomal recessive disorder that causes variation in sphingomyelin phosphodiesterase-1 (SMPD1). Overlap and the lack of some findings make the diagnosis very difficult. Diagnosis is crucial due to the multisystem involvement that this LSD can have. The disease is rare, untreatable with early manifestations and a poor prognosis, with newborns rarely surviving for 2–3 years.

Keywords: Overlap and the lack of some findings make the diagnosis very difficult.