Rare Diseases You've Never Heard Of

Wolman Disease

Wolman disease is a rare genetic disorder caused by a deficiency in a key enzyme called lysosomal acid lipase (LAL). This enzyme is involved in the breakdown of certain lipids, and an LAL deficiency can lead to frequent vomiting, diarrhea, organ enlargement and poor nutrient absorption. Considering the symptoms and a lack of proper treatment, the condition is severe and often life-threatening.

Reviewed by: 
Review Date: 
February 28, 2014

Citation: 
Last Updated:
July 1, 2014