Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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The Narrative Review of Galactosemia Including a New Subtype

새로운 유형을 포함한 갈락토스혈증의 이해

  • Ga Young Park (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University School of Medicine) ;
  • Yong Hee Hong (Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University School of Medicine)
  • 박가영 (순천향대학교 부천병원 소아청소년과학교실) ;
  • 홍용희 (순천향대학교 부천병원 소아청소년과학교실)
  • Published : 2023.12.31
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Abstract

Galactosemia is an inborn error disorder of carbohydrate metabolism, caused by metabolic disturbances at various stages of the Leloir pathway. In patients with galactosemia, accurate diagnosis and appropriate care are essential to avoid complications and unnecessary treatments. And a careful differential diagnosis of the type of galactosemia is crucial. Even with an appropriate galactose-restricted diet, long-term complications may occur, especially in patients with classic galactosemia. So new treatment options are being developed. In this review, we will review the new symptoms of each subtype that have been reported recently and GALM (Galactose mutarotase) deficiency, a new form of galactosemia, and treatment policies according to recent guidelines.

Keywords

References

  1. Lee BH, Cheon CK, Kim JM, Kang M, Kim JH, Yang SH, et al. Low prevalence of classical galactosemia in Korean population. J Hum Genet 2011;56:94-6. https://doi.org/10.1038/jhg.2010.152
  2. Conte F, van Buuringen N, Voermans NC, Lefeber DJ. Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look. Biochim Biophys Acta Gen Subj 2021;1865:129898.
  3. Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M. Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment. Biomolecules 2022;12:968.
  4. Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Duarte Variant Galactosemia. 2014 Dec 4 [Updated 2020 Jun 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
  5. Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, et al. Biallelic GALM Pathogenic Variants Cause a Novel Type of Galactosemia. Genet Med 2019;21:1286-94. https://doi.org/10.1038/s41436-018-0340-x
  6. Stettner NM, Cutler DJ, Fridovich-Keil JL. Racial and ethnic diversity of classic and clinical variant galactosemia in the United States. Mol Genet Metab 2023;138:107542.
  7. Pyhtila BM, Shaw KA, Neumann SE, Fridovich-Keil JL. Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead. JIMD Rep 2015;15:79-93.
  8. Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD. Duarte Variant Galactosemia. In Gene Reviews; University of Washington: Seattle, WA, USA, 2020; pp. 1993-2018.
  9. Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Moslinger D, Couce ML, et al. Galactokinase deficiency: lessons from the GalNet registry. Genet Med 2021;23:202-10.
  10. Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, et al. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet 1999;65:1299-307. https://doi.org/10.1086/302611
  11. Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, et al. Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet J Rare Dis 2022;17:331.
  12. Iwasawa S, Kikuchi A, Wada Y, Arai-Ichinoi N, Sakamoto O, Tamiya G, et al. The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants. Mol Genet Metab 2019;126:362-7. https://doi.org/10.1016/j.ymgme.2019.01.018
  13. Yim S, Seo H, Kim Y, Oh J. Perception and Demand of Primary Caregivers and Clinical Experts for the Dietary Management of Children with Galactosemia in Korea. Journal of the Korean Society of Food Culture [Internet] 2022;37:143-52.
  14. Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism 2018;83:188-96. https://doi.org/10.1016/j.metabol.2018.01.025
  15. Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, et al. Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers. Brain Commun 2020;2:fcaa006.
  16. Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism 2018;83:188-96. https://doi.org/10.1016/j.metabol.2018.01.025
  17. Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis 2019;14:86.
  18. Fridovich-Keil J, Bean L, He M, Schroer R. Epimerase Deficiency Galactosemia. 2011 Jan 25 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
  19. Marin-Quilez A, Di Buduo CA, Benito R, Balduini A, Rivera J, Bastida JM. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. Platelets 2023;34:2176699.
  20. Marin-Quilez A, Di Buduo CA, Diaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, et al. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis. Blood 2023;141:406-21. https://doi.org/10.1182/blood.2022016995
  21. Sohn YB. A Diagnostic Algorithm of Newborn Screening for Galactosemia. J Korean Soc Inherit Metab Dis 2015;15:101-9.
  22. Yang SD, Lee J, Shin YL, Lee DH, Hong YH. Clinical and Laboratory Characteristics of Galactokinase Hyperactivity. J Korean Soc Inherit Metab Dis 2016;16:135-40.
  23. Bahadori A, Kuhlmann B, Debray D, Franchi-Abella S, Wacker J, Beghetti M, et al. Presentation of Congenital Portosystemic Shunts in Children. Children 2022, 9, 243.
  24. Novelli G, Reichardt JK. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab 2000;71:62-5. https://doi.org/10.1006/mgme.2000.3073
  25. Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis 2017;40:171-6. https://doi.org/10.1007/s10545-016-9990-5
  26. Kerckhove KV, Diels M, Vanhaesebrouck S, Luyten K, Pyck N, De Meyer A, et al. Consensus on the guidelines for the dietary management of classical galactosemia. Clin Nutr ESPEN 2015;10:e1-e4. https://doi.org/10.1016/j.clnme.2014.10.001
  27. Galactosemia diet guidebook. 농촌진흥청 국립농업과학원 농식품자원부. 2022
  28. Amanda RCN, Veronica C, Johana MG, Olga YEP. Advances and Challenges in Classical Galactosemia. Pathophysiology and Treatment. J Inborn Errors Metab Screen 2022, 10, e20210026.
  29. Badiu Tisa I, Achim AC, Cozma-Petrut A. The Importance of Neonatal Screening for Galactosemia. Nutrients 2022;15:10.