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Test ID: LYSDU Lysosomal Storage Disorders Screen, Urine

Useful For

Screening patients suspected of having a lysosomal storage disorder

Testing Algorithm

A combined analysis and interpretation is reported to the client.

Method Name

CTSNR, MQLNR: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

MQNNR: Spectrophotometry (SP)

OLINR: Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

Reporting Name

Lysosomal Storage Disorders Scrn, U

Specimen Type


Necessary Information

Patient's age is required.

Specimen Required

Supplies: Urine Tubes, 10 mL (T068)

Specimen Volume: 10 mL

Pediatric: 3 mL

Collection Instructions:

1. Collect a random urine specimen (early morning preferred).

2. Immediately freeze specimen.

Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen 45 days

Clinical Information

Lysosomal storage disorders (LSD) are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules leading to cell damage and organ dysfunction. Approximately 50 lysosomal storage disorders have been described with a wide phenotypic spectrum and ranging in severity from neonatal lethal to later onset milder variants.


Although classification is not always straightforward, LSDs are generally categorized according to the type of storage material that accumulates in the cells and tissues. Major categories include mucopolysaccharidoses, oligosaccharidoses, mucolipidoses, and sphingolipidoses. In many cases, accumulating analytes can be detected in urine. Screening for these disorders typically begins with an analysis to detect disease-specific metabolite patterns or profiles indicative of a LSD. The combined analysis of disease-specific markers for LSDs in multiple tests can allow for the identification of additional disorders that may not be picked up using any of the single tests alone. 


Disorders detectable by this approach include the oligosaccharidoses alpha-mannosidosis, aspartylglucosaminuria, fucosidosis, Schindler disease, and sialidosis; the sphingolipidoses GM1 gangliosidosis, Sandhoff disease, galactosialidosis, saposin B deficiency, metachromatic leukodystrophy, multiple sulfatase deficiency, Fabry disease, Gaucher disease, and Krabbe disease; the mucopolysaccharidoses excluding MPS IX (hyaluronidase deficiency); the glycogen storage disorder Pompe disease and the mucolipidoses types II and III. Additionally, other disorders such as CDG type IIb, and de-glycosylation disorders such as NGLY1-CDG may also be detected.


The mucopolysaccharidoses (MPS) are a subset of lysosomal storage disorders caused by the deficiency of any one of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan sulfate, keratan sulfate, or chondroitin sulfate (glycosaminoglycans: GAGs). Undegraded or partially degraded GAGs (also called mucopolysaccharides) are stored in lysosomes and excreted in the urine. Accumulation of GAGs in lysosomes interferes with normal functioning of cells, tissues, and organs resulting in the clinical features observed in MPS disorders. There are 11 known enzyme deficiencies that result in MPS. In addition, abnormal GAG storage is observed in multiple sulfatase deficiency and in I-cell disease. Finally, an abnormal excretion of GAGs in urine is observed occasionally in other disorders including active bone diseases, connective tissue disease, hypothyroidism, urinary dysfunction, and oligosaccharidoses.


The oligosaccharidoses (glycoproteinoses) are a subset of lysosomal storage disorders caused by the deficiency of any one of the lysosomal enzymes involved in the degradation of complex oligosaccharide chains. They are characterized by the abnormal accumulation of incompletely degraded oligosaccharides in cells and tissues and the corresponding increase of related free oligosaccharides in the urine. Clinical features can include bone abnormalities, coarse facial features, corneal cloudiness, organomegaly, muscle weakness, hypotonia, developmental delay, and ataxia. Age of onset ranges from early infancy to adult and can even present prenatally.


The sphingolipidoses are a subset of lysosomal storage disorders caused by a defect in any one of the enzymes that degrade complex ceramide containing lipids. They are characterized by the excessive accumulation of sphingolipids in the tissues, particularly in the central nervous system resulting in progressive neurodegeneration and developmental regression. In 2 conditions, Fabry disease and Gaucher disease type I, there is only systemic involvement. In many cases, sphingolipidoses can be detected by through oligosaccharide analysis in urine.


Because of the similarity of features across disorders and their variability, clinical diagnosis of LSDs can be challenging; therefore, urine screening and the combined analysis of multiple urine screening tests is an important tool for the initial workup of an individual suspected of having a lysosomal storage disorder. Abnormal results can be followed up with the appropriate enzyme or molecular analysis.

Reference Values

An interpretive report will be provided.


Abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. Follow-up testing is recommended to confirm a diagnosis.


When abnormal results are detected with characteristic patterns, a detailed interpretation is given, including an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro confirmatory studies (enzyme assay and molecular test).

Clinical Reference

1. Scriver's The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). Part 16 Lysosomal Disorders. Accessed February 25, 2016. Available at

2. Enns GM, Steiner RD, Cowan TM: Lysosomal disorders. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth. McGraw Hill Medical, 2009

3. Kingma SDA, Bodamer OA, Wijburg FA: Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. In Best Practice and Research Clinical Endocrinology and Metabolism. Volume 29, Issue 2, March 2015, pp 145-157, Available at

Day(s) and Time(s) Performed


Analytic Time

14 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 U.S. Food and Drug Administration.

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LYSDU Lysosomal Storage Disorders Scrn, U 49284-3


Result ID Test Result Name Result LOINC Value
38059 LYSDU Interpretation 49284-3

CPT Code Information

82542x2-Ceramide Trihex and Sulfatide, U and Mucopolysaccharides, (MPS), QL, U

83864-Mucopolysaccharides (MPS), QN, U

84377-Oligosaccharide Screen, U


1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Biochemical Genetics Patient Information (T602) in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: