• 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.
  NCI
  U.S. National Cancer Institute, 2021
• The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.
  NLM Medical Subject Headings
  U.S. National Library of Medicine, 2025
• (wolman's disease) Severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.
  CRISP Thesaurus
  National Institutes of Health, 2006
• (lysosomal acid lipase deficiency) An autosomal recessive condition caused by mutation(s) in the LIPA gene, resulting in lysosomal acid lipase deficiency, which leads to accumulation of cholesterol esters and triglycerides in many organs.
  NICHD Pediatric Terminology
  U.S. National Cancer Institute, 2021
• Wolman disease is a congenital disease characterized by an impaired metabolism of the fats (lipids). It is the most severe type of lysosomal acid lipase deficiency. The lysomal acid lipase deficiency causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged...
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences