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Disorder of galactose metabolism

MedGen UID:
575203
•Concept ID:
C0342745
•
Disease or Syndrome
Synonyms: disorder of galactose metabolism; Galactose metabolism disorder
SNOMED CT: Galactose metabolism disorder (237963003); Disorder of galactose metabolism (237963003)
 
Monarch Initiative: MONDO:0017690
Orphanet: ORPHA308467

Professional guidelines

PubMed

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Diagnosis and management of Aspergillus diseases: executive summary of the 2017 ESCMID-ECMM-ERS guideline.
Ullmann AJ, Aguado JM, Arikan-Akdagli S, Denning DW, Groll AH, Lagrou K, Lass-Flörl C, Lewis RE, Munoz P, Verweij PE, Warris A, Ader F, Akova M, Arendrup MC, Barnes RA, Beigelman-Aubry C, Blot S, Bouza E, Brüggemann RJM, Buchheidt D, Cadranel J, Castagnola E, Chakrabarti A, Cuenca-Estrella M, Dimopoulos G, Fortun J, Gangneux JP, Garbino J, Heinz WJ, Herbrecht R, Heussel CP, Kibbler CC, Klimko N, Kullberg BJ, Lange C, Lehrnbecher T, Löffler J, Lortholary O, Maertens J, Marchetti O, Meis JF, Pagano L, Ribaud P, Richardson M, Roilides E, Ruhnke M, Sanguinetti M, Sheppard DC, Sinkó J, Skiada A, Vehreschild MJGT, Viscoli C, Cornely OA
Clin Microbiol Infect 2018 May;24 Suppl 1:e1-e38. Epub 2018 Mar 12 doi: 10.1016/j.cmi.2018.01.002. PMID: 29544767
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article

Recent clinical studies

Etiology

Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME
Orphanet J Rare Dis 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4. PMID: 36056436Free PMC Article
Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects.
Haskovic M, Poot WJ, van Golde RJT, Benneheij SH, Oussoren E, de Wert GMWR, Krumeich A, Rubio-Gozalbo ME
J Inherit Metab Dis 2018 Sep;41(5):791-797. Epub 2018 Apr 18 doi: 10.1007/s10545-018-0179-y. PMID: 29671189Free PMC Article
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
Body composition in children with galactosaemia.
Panis B, Forget PP, Nieman FH, van Kroonenburgh MJ, Rubio-Gozalbo ME
J Inherit Metab Dis 2005;28(6):931-7. doi: 10.1007/s10545-005-0189-4. PMID: 16435185
Galactose intolerance and the risk of cataract.
Winder AF, Fells P, Jones RB, Kissun RD, Menzies IS, Mount JN
Br J Ophthalmol 1982 Jul;66(7):438-41. doi: 10.1136/bjo.66.7.438. PMID: 7093182Free PMC Article

Diagnosis

Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME
Orphanet J Rare Dis 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4. PMID: 36056436Free PMC Article
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
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
Özgül RK, Güzel-Ozantürk A, Dündar H, Yücel-Yılmaz D, Coşkun T, Sivri S, Aydoǧdu S, Tokatlı A, Dursun A
J Hum Genet 2013 Oct;58(10):675-8. Epub 2013 Aug 8 doi: 10.1038/jhg.2013.76. PMID: 23924834
Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.
Singh R, Thapa BR, Kaur G, Prasad R
Clin Chim Acta 2012 Dec 24;414:191-6. Epub 2012 Sep 25 doi: 10.1016/j.cca.2012.09.017. PMID: 23022339
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

Therapy

Effect of calcium, vitamins K1 and D3 on bone in galactosemia.
Panis B, Vermeer C, van Kroonenburgh MJPG, Nieman FHM, Menheere PPCA, Spaapen LJ, Rubio-Gozalbo ME
Bone 2006 Nov;39(5):1123-1129. Epub 2006 Jun 19 doi: 10.1016/j.bone.2006.05.002. PMID: 16782422

Prognosis

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Welsink-Karssies MM, Schrantee A, Caan MWA, Hollak CEM, Janssen MCH, Oussoren E, de Vries MC, Roosendaal SD, Engelen M, Bosch AM
Mol Genet Metab 2020 Dec;131(4):370-379. Epub 2020 Nov 6 doi: 10.1016/j.ymgme.2020.11.001. PMID: 33199205
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Papachristoforou R, Petrou PP, Sawyer H, Williams M, Drousiotou A
Ann Hum Genet 2019 Sep;83(5):291-298. Epub 2019 Apr 17 doi: 10.1111/ahg.12318. PMID: 30994193Free PMC Article
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
A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family.
De Lucca M, Barba C, Casique L
Clin Chim Acta 2017 Jul;470:20-23. Epub 2017 Apr 24 doi: 10.1016/j.cca.2017.04.021. PMID: 28450132
Ophthalmic findings in classical galactosemia--a screened population.
Burke JP, O'Keefe M, Bowell R, Naughten ER
J Pediatr Ophthalmol Strabismus 1989 Jul-Aug;26(4):165-8. doi: 10.3928/0191-3913-19890701-05. PMID: 2760788

Clinical prediction guides

Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B, Demirbas D, Arantes RR, Banford S, Burlina AB, Cabrera A, Chiesa A, Couce ML, Dionisi-Vici C, Gautschi M, Grünewald S, Morava E, Möslinger D, Scholl-Bürgi S, Skouma A, Stepien KM, Timson DJ, Berry GT, Rubio-Gozalbo ME
Orphanet J Rare Dis 2022 Sep 2;17(1):331. doi: 10.1186/s13023-022-02494-4. PMID: 36056436Free PMC Article
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.
Papachristoforou R, Petrou PP, Sawyer H, Williams M, Drousiotou A
Ann Hum Genet 2019 Sep;83(5):291-298. Epub 2019 Apr 17 doi: 10.1111/ahg.12318. PMID: 30994193Free PMC Article
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
Body composition in children with galactosaemia.
Panis B, Forget PP, Nieman FH, van Kroonenburgh MJ, Rubio-Gozalbo ME
J Inherit Metab Dis 2005;28(6):931-7. doi: 10.1007/s10545-005-0189-4. PMID: 16435185
Bone metabolism in galactosemia.
Panis B, Forget PP, van Kroonenburgh MJ, Vermeer C, Menheere PP, Nieman FH, Rubio-Gozalbo ME
Bone 2004 Oct;35(4):982-7. doi: 10.1016/j.bone.2004.06.004. PMID: 15454106

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