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Test ID: GALE Uridine Diphosphate--Galactose 4' Epimerase, Blood

Useful For

Diagnosis of uridine diphosphate-galactose 4' epimerase deficiency

Testing Algorithm

See Galactosemia Testing Algorithm in Special Instructions for additional information.

Method Name

Enzyme Reaction followed by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

UDP-galactose 4' epimerase, RBC

Specimen Type

Whole Blood EDTA


Ordering Guidance


This test is appropriate for diagnosis of uridine diphosphate-galactose 4' epimerase (GALE) deficiency, but it will not detect galactokinase (GALK) deficiency or galactose-1-phosphate uridyltransferase (GALT) deficiency or galactose mutarotase (GALM) deficiency.

-To evaluate for GALK deficiency, order GALK / Galactokinase, Blood.

-To evaluate for GALT deficiency, order GALT / Galactose-1-Phosphate Uridyltransferase, Blood.

-To evaluate for GALM deficiency, order GALP / Galactose, Plasma and molecular analysis of the GALM gene.

 

This assay is not appropriate for monitoring dietary compliance for patients with GALE deficiency. If dietary monitoring is needed, order GAL1P / Galactose-1-Phosphate, Erythrocytes.



Necessary Information


Patient's age is required.

 

Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.



Specimen Required


Multiple whole blood tests for galactosemia can be performed on 1 specimen. Prioritize order of testing when submitting specimens. See Galactosemia-Related Test List in Special Instructions for a list of tests that can be ordered together.

 

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium or lithium heparin) or yellow top (ACD)

Specimen Volume: 5 mL


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Refrigerated (preferred) 14 days
  Ambient  6 days

Clinical Information

Galactosemia is an autosomal recessive disorder that results from a deficiency of any 1 of the 4 enzymes catalyzing the conversion of galactose to glucose: galactose-1-phosphate uridyltransferase (GALT), galactokinase (GALK), uridine diphosphate galactose-4-epimerase (GALE), and galactose mutarotase (GALM).

 

Epimerase deficiency galactosemia can be categorized into 3 types: generalized, peripheral, and intermediate. Generalized epimerase deficiency galactosemia results in profoundly decreased enzyme activity in all tissues, whereas peripheral epimerase deficiency galactosemia results in decreased enzyme activity in red and white blood cells, but normal enzyme activity in all other tissues. This is compared to intermediate epimerase deficiency galactosemia, which results in decreased enzyme activity in red and white blood cells and less than 50% of normal enzyme levels in other tissues.

 

Clinically, infants with generalized epimerase deficiency galactosemia develop symptoms such as liver and renal dysfunction and mild cataracts when on a normal milk diet, while infants with peripheral or intermediate epimerase deficiency galactosemia do not develop any symptoms. Generalized epimerase deficiency galactosemia is treated by a galactose- and lactose-restricted diet, which can improve or prevent the symptoms of renal and liver dysfunction and mild cataracts. Despite adequate treatment from an early age, individuals with generalized epimerase deficiency galactosemia remain at increased risk for developmental delay and intellectual disability. Unlike patients with classic galactosemia resulting from a GALT deficiency, female patients with generalized epimerase deficiency galactosemia experience normal puberty and are not at increased risk for premature ovarian failure. Based upon reports by newborn screening programs, the frequency of epimerase deficiency galactosemia in the United States ranges from approximately 1 in 6700 African American infants to 1 in 70,000 infants of European ancestry.

 

Galactose-1-phosphate (Gal-1-P) accumulates in the erythrocytes of patients with galactosemia due to GALT, GALE, or in neonates with GALM deficiency. The quantitative measurement of Gal-1-P (GAL1P / Galactose-1-Phosphate, Erythrocytes) is useful for monitoring compliance with dietary therapy. Gal-1-P is thought to be the causative factor for development of liver disease in patients with GALT or GALE deficiency and, because of this, patients should maintain low levels and be monitored on a regular basis.

 

Newborn screening varies from state to state and identifies potentially affected individuals by measuring total galactose (galactose and Gal-1-P) and/or determining the activity of the GALT enzyme. The diagnosis of galactosemia is established by follow-up quantitative measurement of GALT enzyme activity. If enzyme levels are normal, but an infant has an elevated Gal-1-P, then epimerase deficiency galactosemia is to be considered. Molecular testing via sequencing of the GALE gene may be performed.

 

See Galactosemia Testing Algorithm in Special Instructions.

Reference Values

≥3.5 nmol/h/mg of hemoglobin

Interpretation

An interpretive report will be provided.

Clinical Reference

1. Fridovich-Keil J, Bean L, He M, Schroer R: Epimerase deficiency galactosemia. In: Adam MP, Ardinger HH, Pagon RA, et al. eds. GeneReviews [Internet]. University of Washington, Seattle; 2011. Updated March 4, 2021. Accessed May 3, 2021. Available at www.ncbi.nlm.nih.gov/books/NBK51671/

2. Walter JH, Fridovich-Keil JL: Galactosemia. In: Valle D, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019 Accessed May 3, 2021. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=%20225081023

3. Timson DJ: Type IV galactosemia. Genet Med. 2019 Jun;21(6):1283-1285. doi: 10.1038/s41436-018-0359-z

4. Wada Y, Kikuchi A, Arai-Ichinoi N, et al: Biallelic GALM pathogenic variants cause a novel type of galactosemia. Genet Med. 2019 Jun;21(6):1286-1294. doi: 10.1038/s41436-018-0340-x

Day(s) Performed

Friday

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

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GALE UDP-galactose 4' epimerase, RBC 79469-3

 

Result ID Test Result Name Result LOINC Value
64372 UDP-galactose 4' epimerase, RBC 79469-3
37979 Interpretation (GALE) 59462-2
37978 Reviewed By 18771-6

Forms

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) is recommended, see Special Instructions.

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

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