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Cholesterol ester storage disease: clinical, biochemical, and pathological studies
The Journal of Pediatrics
|June 1, 1977
Summary
Cholesterol ester storage disease in three siblings revealed severe outcomes, including early death and significant organ damage due to acid lipase deficiency. This autosomal recessive condition presented a particularly aggressive course in this family.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Cholesterol ester storage disease (CESD) is a rare autosomal recessive metabolic disorder.
- It is characterized by the accumulation of cholesterol esters in various tissues.
- Acid lipase deficiency is the underlying cause of CESD.