Wolman Disease

**Semantic type:** Disease or Syndrome

**Definition:** A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.

**Synonyms:** - Lysosomal Acid Lipase Deficiency - Wolman's Disease