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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: 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
Prenatal diagnosis of galactosemia.
Ng WG, Donnell GN, Bergren WR, Alfi O, Golbus MS
Clin Chim Acta 1977 Feb 1;74(3):227-35. doi: 10.1016/0009-8981(77)90289-3. PMID: 188570
Genetic screening.
Levy HL
Adv Hum Genet 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1. PMID: 4593296

Recent clinical studies

Etiology

Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Schadewaldt P, Kamalanathan L, Hammen HW, Kotzka J, Wendel U
Arch Physiol Biochem 2014 Dec;120(5):228-39. Epub 2014 Sep 30 doi: 10.3109/13813455.2014.962547. PMID: 25268296
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
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
Prenatal diagnosis of galactosemia.
Ng WG, Donnell GN, Bergren WR, Alfi O, Golbus MS
Clin Chim Acta 1977 Feb 1;74(3):227-35. doi: 10.1016/0009-8981(77)90289-3. PMID: 188570
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

Diagnosis

Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
Berry GT
J Inherit Metab Dis 2011 Apr;34(2):345-55. Epub 2011 Jan 19 doi: 10.1007/s10545-010-9260-x. PMID: 21246399
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
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ, Yu C, Rangel VE, Keenan J, Lamance K, Fridovich-Keil JL
Am J Hum Genet 2006 Jan;78(1):89-102. Epub 2005 Nov 14 doi: 10.1086/498985. PMID: 16385452Free PMC Article
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

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
Leguminosae in the diet: the raffinose-stachyose question.
Wiesmann UN, Rosé-Beutler B, Schlüchter R
Eur J Pediatr 1995;154(7 Suppl 2):S93-6. doi: 10.1007/BF02143812. PMID: 7671975
Effect of glucose and galactose loading in normal subjects on red and white blood cell uridine diphosphate sugars.
Gibson JB, Berry GT, Mazur AT, Palmieri MJ, Reynolds RA, Segal S
Biochem Mol Med 1995 Jun;55(1):8-14. doi: 10.1006/bmme.1995.1025. PMID: 7551832
Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combined variation: clinical and biochemical studies.
Levy HL, Sepe SJ, Walton DS, Shih VE, Hammersen G, Houghton S, Beutler E
J Pediatr 1978 Mar;92(3):390-3. doi: 10.1016/s0022-3476(78)80425-9. PMID: 632977

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

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