U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Erythrocyte galactose epimerase deficiency

MedGen UID:
657805
•Concept ID:
C0574090
•
Disease or Syndrome
Synonyms: Erythrocyte epimerase deficiency galactosemia; erythrocyte epimerase deficiency galactosemia; erythrocyte galactose epimerase deficiency; Erythrocyte GALE deficiency; erythrocyte GALE deficiency; erythrocyte GALE-D; Erythrocyte GALE-D; Erythrocyte UDP-galactose-4-epimerase deficiency; erythrocyte UDP-galactose-4-epimerase deficiency; Erythrocyte uridine diphosphate galactose-4-epimerase deficiency; erythrocyte uridine diphosphate galactose-4-epimerase deficiency
SNOMED CT: Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (297238008)
 
Monarch Initiative: MONDO:0017691
Orphanet: ORPHA308473

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythrocyte galactose epimerase deficiency

Professional guidelines

PubMed

Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy.
Holton JB, de la Cruz F, Levy HL
J Pediatr 1993 Dec;123(6):1009-14. doi: 10.1016/s0022-3476(05)80404-4. PMID: 8229508
Genetic screening.
Levy HL
Adv Hum Genet 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1. PMID: 4593296
A guide to screening newborn infants for inborn errors of metabolism.
Buist NR, Jhaveri BM
J Pediatr 1973 Mar;82(3):511-22. doi: 10.1016/s0022-3476(73)80136-2. PMID: 4266933

Recent clinical studies

Etiology

Galactosemia: when is it a newborn screening emergency?
Berry GT
Mol Genet Metab 2012 May;106(1):7-11. Epub 2012 Mar 21 doi: 10.1016/j.ymgme.2012.03.007. PMID: 22483615
Idiopathic presenile cataract formation and galactosaemia.
Stevens RE, Datiles MB, Srivastava SK, Ansari NH, Maumenee AE, Stark WJ
Br J Ophthalmol 1989 Jan;73(1):48-51. doi: 10.1136/bjo.73.1.48. PMID: 2537652Free PMC Article
Studies on the molecular defect in galactosemia.
Tedesco TA
UCLA Forum Med Sci 1975;(18):467-77. doi: 10.1016/b978-0-12-139050-1.50034-3. PMID: 173062
Galactose metabolism and its regulation.
Cohn RM, Segal S
Metabolism 1973 Apr;22(4):627-42. doi: 10.1016/0026-0495(73)90078-4. PMID: 4348859
THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT.
ROBINSON A
J Exp Med 1963 Sep 1;118(3):359-70. doi: 10.1084/jem.118.3.359. PMID: 14077997Free PMC Article

Diagnosis

Classical galactosaemia revisited.
Bosch AM
J Inherit Metab Dis 2006 Aug;29(4):516-25. Epub 2006 Jul 11 doi: 10.1007/s10545-006-0382-0. PMID: 16838075
Galactosemia.
Ramesh S, Krishnan BR
Indian Pediatr 1991 Jul;28(7):789-91. PMID: 1800354
Red cell enzymes.
Paniker NV
CRC Crit Rev Clin Lab Sci 1975 Mar;5(4):469-502. doi: 10.3109/10408367509107051. PMID: 166798
Genetic screening.
Levy HL
Adv Hum Genet 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1. PMID: 4593296
Galactose metabolism of the red cell.
Ng WG
Exp Eye Res 1971 May;11(3):402-14. doi: 10.1016/s0014-4835(71)80053-2. PMID: 4942259

Therapy

Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
Balakrishnan B, An D, Nguyen V, DeAntonis C, Martini PGV, Lai K
Mol Ther 2020 Jan 8;28(1):304-312. Epub 2019 Sep 19 doi: 10.1016/j.ymthe.2019.09.018. PMID: 31604675Free PMC Article
Verbal dyspraxia and galactosemia.
Webb AL, Singh RH, Kennedy MJ, Elsas LJ
Pediatr Res 2003 Mar;53(3):396-402. doi: 10.1203/01.PDR.0000049666.19532.1B. PMID: 12595586
The effects of a new aldose reductase inhibitor (tolrestat) in galactosemic and diabetic rats.
Simard-Duquesne N, Greselin E, Dubuc J, Dvornik D
Metabolism 1985 Oct;34(10):885-92. doi: 10.1016/0026-0495(85)90133-7. PMID: 3930915
Unusual late neurological sequelae in galactosaemia.
Jan JE, Wilson RA
Dev Med Child Neurol 1973 Feb;15(1):72-4. doi: 10.1111/j.1469-8749.1973.tb04869.x. PMID: 4729415
Urinary galactitol in galactosemic patients.
Roe TF, Ng WG, Bergren WR, Donnell GN
Biochem Med 1973 Apr;7(2):266-73. doi: 10.1016/0006-2944(73)90082-3. PMID: 4704462

Prognosis

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM
J Inherit Metab Dis 2022 Nov;45(6):1094-1105. Epub 2022 Aug 25 doi: 10.1002/jimd.12548. PMID: 36053831
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM
Mol Genet Metab 2020 Mar;129(3):171-176. Epub 2020 Jan 9 doi: 10.1016/j.ymgme.2020.01.002. PMID: 31954591
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali M
Mol Genet Metab 2018 Nov;125(3):258-265. Epub 2018 Aug 23 doi: 10.1016/j.ymgme.2018.08.012. PMID: 30172461
Classical Galactosemia Among Indian Children: Presentation and Outcome from a Pediatric Gastroenterology Center.
Sarma MS, Srivastava A, Yachha SK, Poddar U, Mathias A
Indian Pediatr 2016 Jan;53(1):27-31. doi: 10.1007/s13312-016-0784-5. PMID: 26840667
Verbal dyspraxia and galactosemia.
Webb AL, Singh RH, Kennedy MJ, Elsas LJ
Pediatr Res 2003 Mar;53(3):396-402. doi: 10.1203/01.PDR.0000049666.19532.1B. PMID: 12595586

Clinical prediction guides

Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM
J Inherit Metab Dis 2022 Nov;45(6):1094-1105. Epub 2022 Aug 25 doi: 10.1002/jimd.12548. PMID: 36053831
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali M
Mol Genet Metab 2018 Nov;125(3):258-265. Epub 2018 Aug 23 doi: 10.1016/j.ymgme.2018.08.012. PMID: 30172461
Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.
Yuzyuk T, Viau K, Andrews A, Pasquali M, Longo N
J Inherit Metab Dis 2018 Mar;41(2):197-208. Epub 2018 Jan 19 doi: 10.1007/s10545-018-0136-9. PMID: 29350350
Verbal dyspraxia and galactosemia.
Webb AL, Singh RH, Kennedy MJ, Elsas LJ
Pediatr Res 2003 Mar;53(3):396-402. doi: 10.1203/01.PDR.0000049666.19532.1B. PMID: 12595586
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ 2nd, Strobl W, Kozak L, Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD
Hum Mutat 1999;13(6):417-30. doi: 10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0. PMID: 10408771

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...