Acid Lipase Disorder (Wolman Disease) Test ₹12000
Detects deficiency of Lysosomal Acid Lipase (LAL), an enzyme required for fat metabolism. This test helps diagnose rare genetic conditions such as Wolman Disease and Cholesteryl Ester Storage Disease (CESD).
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What is the Acid Lipase Disorder (Wolman Disease) Test?
The Acid Lipase Disorder Test measures the activity of the enzyme Lysosomal Acid Lipase (LAL). This enzyme is responsible for breaking down fats and cholesterol inside cells. A deficiency of LAL can cause rare inherited metabolic disorders such as Wolman Disease in infants or Cholesteryl Ester Storage Disease (CESD) in children and adults. Early detection helps guide treatment and genetic counseling.
Who should take this test?
- Infants with symptoms of Wolman Disease.
- Children or adults with suspected Lysosomal Acid Lipase deficiency.
- Patients with unexplained liver enlargement or abnormal lipid levels.
- Individuals with family history of genetic metabolic disorders.
- Doctor-recommended evaluation for rare lipid metabolism disorders.
Preparation & Test Process
How to interpret results
The test measures the activity of lysosomal acid lipase enzyme.
Low enzyme activity may indicate Lysosomal Acid Lipase deficiency,
which can lead to Wolman Disease or Cholesteryl Ester Storage Disease.
Normal enzyme activity generally indicates normal lipid metabolism.
Results should always be interpreted by a metabolic specialist or healthcare professional.
FAQs – Acid Lipase Disorder (Wolman Disease) Test
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