• A rare genetic disorder characterized by complete absence of an enzyme known as lysosomal acid lipase


  • Vomiting
  • Diarrhea
  • Poor weight gain
  • Low muscle tone
  • Developmental delay
  • Enlarged liver and spleen
  • Low amounts of iron in the blood
  • Poor absorption of nutrients from food
  • A yellow tint to the skin and the whites of the eyes
  • Inability to metabolize fats(malnutrition)


  • Mutations in the LIPA gene triglycerides and cholesterol build up within the body and are deposited in the adrenal glands, spleen, liver, intestines, and lymph nodes
  • Inherited as an autosomal recessive trait

Risk Factors

  • Mutations of a specific gene

Diagnostic Tests

  • CT
  • X-ray
  • MRI


  • IV nutrition
  • Bone marrow transplant caused remission in one patient
  • Blood transfusions if anemia develops
  • Surgical removal of enlarged spleen
  • Dietary measures to control body lipid levels


  • Cholestyramine
  • Questran
  • Questran light
  • Novo-Cholamine
  • Novo-Cholamine Light
  • Prevalite

Lifestyle Management

  • Genetic testing for family members
  • Genetic prenatal diagnosis of pregnancies for women