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ASMD (= Acid Sphingomyelinase Deficiency, Niemann-Pick Disease Type A/B) is based on the deficiency of the enzyme acid sphingomyelinase, which is caused by a defect in the SMPD1 gene. The lack of acid sphingomelinase leads to an accumulation of sphingomyelin in the cells of various organs (e.g. spleen and liver). Three clinical phenotypes are distinguished: infantile neurovisceral ASMD (Niemann-Pick disease type A), chronic neurovisceral ASMD (Niemann-Pick disease type A/B) and chronic visceral ASMD (Niemann-Pick disease type B). Infantile neurovisceral ASMD is characterized by hepatosplenomegaly, failure to thrive, psychomotor developmental retardation and progressive neurodegeneration. Life expectancy is significantly limited. Clinical signs of chronic neurovisceral ASMD include hepatosplenomegaly, interstitial lung disease and variable neurological symptoms (including ataxia, peripheral neuropathy, cognitive impairment). Visceral symptoms, such as hepatosplenomegaly and interstitial lung disease, are typical for chronic visceral ASMD. Enzyme replacement therapy with recombinant acid sphingomyelinase is currently in clinical trials.

ASMD | SphinCS - Clinical Science for LSD

Synonym: Niemann-Pick Disease Type A/B
Etiology: Deficiency of acid sphingomyelinase 
Gene: SMPD1 Gene
Mode of inheritance: Autosomal recessive


Leading symptoms:

Infantile neuroviszerale ASMD
(Age of onset: infancy)

Chronic neuroviscerale ASMD
(Age of onset: childhood)

Chronic viscerale ASMD
(Age of onset: childhood, adolescence)


Only symptomatic