Acid Lipase Disorder, Heparin Blood
Overview
The Acid Lipase Disorder test measures the activity of the lysosomal acid lipase (LAL) enzyme in a heparinized blood sample. It helps diagnose Lysosomal Acid Lipase Deficiency (LAL-D), a rare inherited metabolic disorder that causes abnormal accumulation of cholesterol esters and triglycerides in various organs, particularly the liver, spleen, and blood vessels.
Why is this test done?
This test is recommended to:
- Diagnose Lysosomal Acid Lipase Deficiency (LAL-D).
- Investigate unexplained liver enlargement or elevated liver enzymes.
- Evaluate abnormal cholesterol and triglyceride levels that do not respond to standard treatment.
- Confirm suspected inherited lipid storage disorders.
- Support early diagnosis for timely treatment and genetic counseling.
Symptoms that may require testing
- Enlarged liver or spleen
- Persistent elevated liver enzymes
- High LDL cholesterol and low HDL cholesterol
- Poor growth or failure to thrive in infants
- Abdominal swelling or discomfort
- Chronic digestive issues
- Fatigue and weakness
- Family history of lysosomal storage disorders
Sample Required
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Sample Type: Heparin Blood
Preparation
- No special preparation is generally required unless advised by your healthcare provider.
Interpretation of Results
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Normal enzyme activity: Suggests lysosomal acid lipase deficiency is unlikely.
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Reduced or absent enzyme activity: Indicates possible Lysosomal Acid Lipase Deficiency (LAL-D) and may require confirmatory genetic testing and specialist evaluation.
Who should consider this test?
- Infants with unexplained liver disease or failure to thrive
- Children and adults with persistent liver abnormalities
- Individuals with unexplained abnormal lipid profiles
- People with a family history of LAL deficiency or inherited metabolic disorders
- Patients suspected of having lysosomal storage diseases
Benefits of Early Diagnosis
- Enables timely treatment and disease management
- Helps prevent progression of liver damage
- Supports cardiovascular risk assessment
- Facilitates family screening and genetic counseling
- Improves long-term clinical outcomes through early intervention
