Beschreibung:
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities () or defects in intracellular transport, resulting in the accumulation of and . There are various subtypes based on their clinical and genetic differences.
Synonym(s):
Niemann-Pick-Krankheit /
Morbus Niemann-Pick /