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Test ID: CTSA Ceramide Trihexosides and Sulfatides, Urine

Reporting Name

Ceramide Trihex and Sulfatide, U

Useful For

Identifying patients with Fabry disease


Identifying patients with metachromatic leukodystrophy


Identifying patients with saposin B deficiency


Identifying patients with multiple sulfatase deficiency


Identifying patients with mucolipidosis II (I-cell disease)

Testing Algorithm

See Fabry Disease Testing Algorithm in Special Instructions.


For more information, see Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A in Special Instructions.

Specimen Type


Necessary Information

Indicate patient's age and sex.

Specimen Required

Patient Preparation: Baby wipes, or wipes containing soaps and lotions, should not be used prior to urine collection because these may interfere with results.

Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 2 mL

Collection Instructions: Collect a first-morning, clean (free of lotion or soaps) random urine specimen.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 45 days
  Ambient  45 days
  Refrigerated  45 days

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed


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.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
CTSA Ceramide Trihex and Sulfatide, U In Process


Result ID Test Result Name Result LOINC Value
81979 Ceramide Trihex and Sulfatide, U 59462-2

Clinical Information

Urinary excretion of ceramide trihexosides can be suggestive of Fabry disease, while excretion of sulfatide with or without ceramide trihexosides can be suggestive of metachromatic leukodystrophy, multiple sulfatase deficiency, mucolipidosis II (I-cell disease), or saposin B deficiency.


Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (alpha-Gal A). Reduced enzyme activity results in accumulation of glycosphingolipids in the lysosomes throughout the body, in particular, the kidney, heart, and brain. Severity and onset of symptoms are dependent on the residual enzyme activity. Symptoms may include acroparesthesias (pain crises), multiple angiokeratomas, reduced or absent sweating, corneal opacity, renal insufficiency leading to end-stage renal disease, and cardiac and cerebrovascular disease. There are renal and cardiac variant forms of Fabry disease that may be underdiagnosed. Females who are carriers of Fabry disease can have clinical presentations ranging from asymptomatic to severely affected, and they may have alpha-Gal A activity in the normal range. Individuals with Fabry disease, regardless of the severity of symptoms, may show an increased excretion of ceramide trihexoside in urine.


Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the arylsulfatase A enzyme, which leads to the accumulation of various sulfatides in the brain, nervous system, and visceral organs, including the kidney and gallbladder. The 3 clinical forms of MLD are late-infantile, juvenile, and adult, depending on age of onset. All result in progressive neurologic changes and leukodystrophy demonstrated on magnetic resonance imaging. Symptoms may include hypotonia, clumsiness, diminished reflexes, slurred speech, behavioral problems, and personality changes. Individuals with MLD typically show an increased excretion of sulfatides in urine.


Low arylsulfatase A activity has been found in some clinically normal parents and other relatives of MLD patients. These individuals do not have metachromatic deposits in peripheral nerve tissues, and their urine content of sulfatides is normal. Individuals with this "pseudodeficiency" have been recognized with increasing frequency among patients with other apparently unrelated neurologic conditions as well as among the general population. This has been associated with a fairly common polymorphism in the arylsulfatase A gene, which leads to low expression of the enzyme (5%-20% of normal).


Saposin B deficiency is a rare autosomal recessive disorder with symptoms that mimic MLD. Age of onset dictates the clinical subtypes of saposin B deficiency. Individuals with saposin B deficiency have normal arylsulfatase A activity. In urine, individuals with saposin B deficiency have an increased excretion of sulfatides and may also show increased excretion of ceramide trihexosides.


Multiple sulfatase deficiency (MSD) is another rare autosomal recessive disorder that mimics the symptoms of MLD. In addition, individuals with MSD also may have clinical manifestations that resemble mucopolysaccharidoses. MSD results in deficiencies in all sulfatases including arylsulfatase A and B. Individuals with MSD have an increased excretion of sulfatides in their urine.


Mucolipidosis II, also known as I-cell disease, is a rare autosomal recessive disorder with features of both mucopolysaccharidoses and sphingolipidoses. It is characterized by congenital or early infantile manifestations including coarse facial features, short stature, skeletal anomalies, cardio- and hepatomegaly, and developmental delays. This is a progressive disorder and death typically occurs in the first decade of life. Some individuals with I-cell disease may show an increased excretion of ceramide trihexosides and sulfatides in urine.


The pattern of ceramide trihexosides or sulfatide excretion will be described. A normal pattern of excretion suggests absence of disease (see Cautions).


Evidence of ceramide trihexoside accumulation suggests decreased or deficient alpha-galactosidase activity. Follow-up testing with the specific enzyme assay is recommended:

-AGA / Alpha-Galactosidase, Leukocytes

-AGABS / Alpha-Galactosidase, Blood Spot

-AGAS / Alpha-Galactosidase, Serum


Evidence of sulfatide accumulation suggests decreased or deficient arylsulfatase A activity. Follow-up with the specific enzyme assay is recommended:

-ARSAW / Arylsulfatase A, Leukocytes

-ARSU / Arylsulfatase A, 24 Hour, Urine

To exclude multiple sulfatase deficiency (MSD), simultaneous determination of ARSB / Arylsulfatase B, Fibroblasts and I2SW / Iduronate-2-Sulfatase, Whole Blood (or I2SBS / Iduronate-2-Sulfatase, Blood Spot) is recommended.


Evidence of both ceramide trihexoside and sulfatide accumulation suggests a diagnosis of mucolipidosis II (I-cell disease) or saposin B deficiency. Follow-up testing to rule-out I-cell disease may include:

-NAGS / Hexosaminidase A and Total Hexosaminidase, Serum

-AGAS / Alpha-Galactosidase, Serum or ANAS / Alpha-N-Acetylglucosaminidase, Serum

Molecular genetic testing is required to confirm saposin B deficiency.


See Fabry Disease Testing Algorithm in Special Instructions.

Clinical Reference

1. Desnick RJ, Ioannou YA, Eng CM. a-Galactosidase A Deficiency: Fabry Disease. In The Online Metabolic and Molecular Bases of Inherited Disease. Edited by D Valle, AL Beaudet, B Vogelstein, et al. 2014. Accessed December 15, 2017. Available at

2. Kuchar L, Ledvinova J, Hrebicek M, et al: Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. Am J Med Genet A 2009 Feb 15;149A(4):613-621

3. Mehta A, Hughes DA: Fabry disease. In GeneReviews Edited by RA Pagon, MP Adam, HH Ardinger, et al. Accessed 6/19/2017. Available at

4. Schlotawa L, Ennemann EC, Radhakrishnan K, et al: SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. Eur J Hum Genet 2011;19:253-261

5. Gieselmann V, Ingeborg K: Metachromatic leukodystrophy. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, McGraw-Hill Book Company. Accessed 3/16/2016. Available at

6. Leroy JG, Cathey S, Friez MJ: Mucolipidosis II. In GeneReviews Edited by RA Pagon, MP Adam, HH Ardinger, et al. Accessed 6/19/2017. Available at

Analytic Time

7 days

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)


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

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

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