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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


  • Infantile neuroviscerale ASMD (Niemann-Pick Disease Type A)
  • Chronic neuroviscerale ASMD (Niemann-Pick Disease Typ A/B)
  • Chronic viscerale ASMD (Niemann-Pick Disease Type B)

Leading symptoms:

Infantile neuroviszerale ASMD
(Age of onset: infancy)

  • Hepatosplenomegaly
  • Recurrent airway infections
  • Muscular hypotonia
  • Psychomotor development delay/ regression
  • Progressive neurodegeneration
  • Failure to thrive
  • Cherry red spot
  • Cytopenia (thrombocytopenia, leukopenia)

Chronic neuroviscerale ASMD
(Age of onset: childhood)

  • Hepatosplenomegaly
  • Interstitial lung disease
  • Dyslipidemia
  • Cytopenia (thrombocytopenia, leucopenia)
  • Cognitive impairment
  • Ataxia
  • Peripheral neuropathy
  • Heart valve disease, arteriosclerosis

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

  • Hepatosplenomegaly
  • Interstitial lung disease
  • Dyslipidemia
  • Cytopenia (thrombocytopenia, leucopenia)
  • Heart valve disease, arteriosclerosis


  • Measurement of the activity of acid sphingomyelinase in leucocytes or dried blood spot
  • Lyso-Sphingomyelin
  • Molecular genetic analysis of SMPD1 Gene

Only symptomatic

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