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Test Code SOFT: Z1000 Galactitol, Quantitative, Urine

Additional Codes

 

Ordering Mnemonic Mayo Test ID
EPIC NAME: MISC. LAB TEST GATOL
EPIC CODE: LAB000  

 

Reporting Name

Galactitol, QN, U

Useful For

Monitoring effectiveness of treatment in patients with galactosemia

 

Establishing a baseline level prior to initiating treatment for galactosemia

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Urine


Ordering Guidance


To monitor dietary ingestion of galactose, order GAL1P / Galactose-1-Phosphate, Erythrocytes.



Necessary Information


Patient's age is required.



Specimen Required


Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 2 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Refrigerated (preferred) 28 days
  Frozen  28 days

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

0-11 months: <109 mmol/mol creatinine

1-3 years: <52 mmol/mol creatinine

4-17 years: <16 mmol/mol creatinine

≥18 years: <13 mmol/mol creatinine

Day(s) Performed

Tuesday, Friday

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GATOL Galactitol, QN, U 47857-8

 

Result ID Test Result Name Result LOINC Value
35831 Galactitol 47857-8
35832 Interpretation (GATOL) 59462-2
35833 Reviewed By 18771-6

Disease States

  • Galactosemia

Clinical Information

Galactosemia is an autosomal recessive disorder that results from a deficiency of 1 of the 4 enzymes catalyzing the conversion of galactose to glucose: galactose-1-phosphate uridyltransferase (GALT), galactokinase, uridine diphosphate galactose-4-epimerase, and galactose mutarotase. GALT deficiency is the most common cause of galactosemia and is often referred to as classic galactosemia. The complete or near complete deficiency of the GALT enzyme is life threatening. If left untreated, complications include liver failure, sepsis, cognitive and intellectual disabilities, and death.

 

Galactosemia is treated with a galactose-free diet, which allows for rapid recovery from the acute symptoms and a generally good prognosis. Despite adequate treatment from an early age, children with galactosemia remain at increased risk for developmental delays, speech problems, abnormalities of motor function, and female patients are at increased risk for premature ovarian failure. Based upon reports by newborn screening programs, the frequency of classic galactosemia in the United States is approximately 1 in 30,000.

 

Galactose levels may be continuously elevated in individuals affected with galactosemia even with a galactose-restricted diet regimen due to an endogenous production of galactose. The reduction of galactose to galactitol is an alternate pathway of galactose disposition when galactose metabolism is impaired. The excretion of abnormal quantities of galactitol in the urine of patients is characteristic of this disorder, and patients may have abnormal levels of galactitol even with dietary compliance. Daily consumption of galactose may cause urine levels to rise thus providing information on effectiveness of or compliance with treatment, but unlike erythrocyte galactose-1-phosphate and plasma galactose, urine galactitol levels usually do not provide insight into acute and transient effects of galactose intake.

Interpretation

The concentration of galactitol is provided along with reference ranges for patients with galactosemia and normal controls.

Clinical Reference

1. Berry GT. Classic galactosemia and clinical variant galactosemia. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated March 11, 2021. Accessed October 24, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1518/

2. Walter JH, Fridovich-Keil JL. Galactosemia. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed October 24, 2023. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225081023&bookid=2709

3. OMIM entry 618881 Galactose mutarotase deficiency. Johns Hopkins University; 2020. Updated August 20, 2020. Available at https://omim.org/entry/618881

4. Pasquali M, Yu C, Coffee B. Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20(1):3-11. doi:10.1038/gim.2017.172

Method Description

A total of 200 mcL of urine are spiked with a mixture of labeled internal standards, allowed to equilibrate, and evaporated. The dry residue is derivatized to form trimethylsilyl  esters, then extracted with hexane. Specimens are analyzed by gas chromatography mass spectrometry, selected ion monitoring using ammonia chemical ionization and a stable isotope dilution method.(Jansen G, Muskiet F, Schierbeek H, et al. Capillary gas chromatography profiling of urinary, plasma, and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta. 1986;157:277-294; Marolt G, Kolar M. Analytical Methods for Determination of Phytic Acid and Other Inositol Phosphates: A Review. Molecules. 2020;26(1):174)

Report Available

3 to 7 days

Specimen Retention Time

3 months

Test Classification

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