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Test ID: LALB Lysosomal Acid Lipase, Blood

Useful For

Evaluation of patients with a clinical presentation suggestive of lysosomal acid lipase deficiency using blood specimens


This test is not useful to determine carrier status for cholesteryl ester storage disease or Wolman disease.

Reporting Name

Lysosomal Acid Lipase, B

Specimen Type

Whole blood

Specimen Required


Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD) or green top (sodium heparin)

Specimen Volume: 2 mL

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 7 days
  Ambient  7 days

Clinical Information

Deficiency of lysosomal acid lipase (LAL) results in 2 clinically distinct phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). Both phenotypes follow an autosomal recessive inheritance pattern and are caused by variant in the LIPA gene.


WD, the early-onset phenotype of LAL deficiency, is a lipid storage disorder characterized by vomiting, diarrhea, failure to thrive, abdominal distension, hepatosplenomegaly, and liver failure. Enlarged adrenal glands with calcification, a classic finding in WD, can lead to adrenal cortical insufficiency. Unless successfully treated, survival is rare beyond infancy.


CESD, the late-onset phenotype of LAL deficiency, is clinically variable with patients presenting at any age with progressive hepatomegaly and often splenomegaly, serum lipid abnormalities, and elevated liver enzymes. In childhood, patients can also present with failure to thrive and delayed milestones. Common features include premature atherosclerosis leading to coronary artery disease and strokes, liver disease of varying severity, and organomegaly. Lipid deposition in the intestinal tract can lead to diarrhea and weight loss.


CESD is likely underdiagnosed and frequently diagnosed incidentally after liver pathology reveals findings similar to nonalcoholic fatty liver disease or nonalcoholic steatohepatitis. Birefringent cholesteryl ester crystals in hepatocytes or Kupffer cells in fresh-frozen tissues are visualized under polarized light and pathognomonic.


Enzyme replacement therapy (sebelipase alfa) was recently approved for both WD and CESD and is now clinically available.

Reference Values

≥21.0 nmol/hour/mL


Enzyme activity below 1.5 nmol/hour/mL in properly submitted samples is consistent with lysosomal acid lipase deficiency: Wolman disease or cholesteryl ester storage disease.


Normal results (≥21.0 nmol/hour/mL) are not consistent with lysosomal acid lipase deficiency.

Clinical Reference

1. Bernstein DL, Hulkova H, Bialer MG, Desnick RJ: Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013 Jun;58(6):1230-1243

2. Reynolds T: Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. J Clin Pathol. 2013 Nov;66(11):918-923

3. Pericleous M, Kelly C, Wang T, Livingstone C, Ala A: Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017 Sep;2(9):670-679. doi:10.1016/S2468-1253(17)30052-3

4. Pastores GM, Hughes DA: Lysosomal acid lipase deficiency: Therapeutic options. Drug Des Devel Ther. 2020 Feb 11;14:591-601

Day(s) Performed


Report Available

8 to 15 days

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
LALB Lysosomal Acid Lipase, B 73958-1


Result ID Test Result Name Result LOINC Value
62954 Lysosomal Acid Lipase, B 73958-1
36339 Reviewed By 18771-6
36338 Interpretation (LALB) 59462-2

Method Name

Fluorometric Enzyme Assay


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Biochemical Genetics Test Request (T798)

-Gastroenterology and Hepatology Client Test Request (T728)

Mayo Clinic Laboratories | Gastroenterology Catalog Additional Information: