Chronic visceral acid sphingomyelinase deficiency
ORPHA:77293· ICD-10 E75.2
Definition
A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood