It is a recessive inherited disorder on chromosome 1 in which lipid accumulates in organs (spleen, liver, brain, kidneys, lungs) and bone marrow due to lack of an enzyme.
Ashkenazi Jews are more affected.
Possible features include:
- splenomegaly
- hepatomegaly
- yellow-brown skin pigmentation
- seizures
- low IQ
- osteoporosis
Treatment can include splenectomy and replacement of the missing enzyme.
