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Classical galactosemia, homozygous Duarte-type

MedGen UID:
468514
Concept ID:
C0268152
Disease or Syndrome
Synonym: Duarte Variant Galactosemia
SNOMED CT: Classical galactosemia, homozygous Duarte-type (10899004)

Disease characteristics

Excerpted from the GeneReview: Duarte Variant Galactosemia
Infants with Duarte variant galactosemia who receive breast milk or a high galactose-containing formula (dairy milk-based formula) are typically asymptomatic and show the same prevalence of acute issues seen in the general newborn population. For decades it has been unclear whether Duarte variant galactosemia results in long-term developmental problems either with or without dietary intervention. However, a recent study of 350 children ages six to 12 years reported no detectable differences in developmental outcomes tested between children with Duarte variant galactosemia and controls, or among children with Duarte variant galactosemia as a function of galactose exposure in infancy. Premature ovarian insufficiency, which is common in classic galactosemia, also has not been reported for girls or women with Duarte variant galactosemia. [from GeneReviews]
Authors:
Judith L Fridovich-Keil  |  Michael J Gambello  |  Rani H Singh, et. al.   view full author information

Professional guidelines

PubMed

Çelik M, Akdeniz O, Ozbek MN, Kirbiyik O
J Trop Pediatr 2022 Oct 6;68(6) doi: 10.1093/tropej/fmac098. PMID: 36375035
Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Mönch E, Klein J
J Inherit Metab Dis 2011 Apr;34(2):399-407. Epub 2011 Feb 3 doi: 10.1007/s10545-010-9270-8. PMID: 21290184
Fensom AH, Benson PF, Blunt S
Br Med J 1974 Nov 16;4(5941):386-7. doi: 10.1136/bmj.4.5941.386. PMID: 4154122Free PMC Article

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Absent/Reduced Galactose-1-Phosphate Uridyltransferase (GALT), Classic Galactosemia, 2021

American College of Medical Genetics and Genomics, Algorithm, Galactosemia (GALT Deficiency), 2021

Recent clinical studies

Etiology

Özgün N, Celik M, Akdeniz O, Ozbek MN, Bulbul A, Anlar B
Int J Dev Neurosci 2019 Nov;78:92-97. Epub 2019 Jul 20 doi: 10.1016/j.ijdevneu.2019.07.004. PMID: 31336146
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
Vogel F
Clin Genet 1984 May;25(5):381-415. PMID: 6373070
Fensom AH, Benson PF, Blunt S
Br Med J 1974 Nov 16;4(5941):386-7. doi: 10.1136/bmj.4.5941.386. PMID: 4154122Free PMC Article
ROBINSON A
J Exp Med 1963 Sep 1;118(3):359-70. doi: 10.1084/jem.118.3.359. PMID: 14077997Free PMC Article

Diagnosis

Çelik M, Akdeniz O, Ozbek MN, Kirbiyik O
J Trop Pediatr 2022 Oct 6;68(6) doi: 10.1093/tropej/fmac098. PMID: 36375035
Latchman K, Brown J, Sineni CJ, Ragin-Dames L, Guo S, Huang J, Thorson W, Hacker S, Barbouth D, Tekin M, Bademci G
J Inherit Metab Dis 2020 Nov;43(6):1199-1204. Epub 2020 Aug 21 doi: 10.1002/jimd.12293. PMID: 32748411
Schulpis K, Papakonstantinou ED, Michelakakis H, Podskarbi T, Patsouras A, Shin Y
Paediatr Perinat Epidemiol 1997 Oct;11(4):436-40. doi: 10.1046/j.1365-3016.1997.d01-31.x. PMID: 9373865
Fensom AH, Benson PF, Blunt S
Br Med J 1974 Nov 16;4(5941):386-7. doi: 10.1136/bmj.4.5941.386. PMID: 4154122Free PMC Article
Beutler E
Isr J Med Sci 1973 Sep-Oct;9(9):1323-9. PMID: 4149512

Therapy

Çelik M, Özgün N, Akdeniz O, Fidan M, Tüzün H, İpek MŞ, Emecan M, Eminoğlu FT
Turk J Pediatr 2018;60(5):540-546. doi: 10.24953/turkjped.2018.05.011. PMID: 30968626
Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI
Orphanet J Rare Dis 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8. PMID: 30477550Free PMC Article
Bosch AM, Bakker HD, Wenniger-Prick LJ, Wanders RJ, Wijburg FA
Arch Dis Child 2004 Nov;89(11):1034-6. doi: 10.1136/adc.2003.037671. PMID: 15499058Free PMC Article
Odièvre M, Brivet M, Rivière MF, Labrune P
J Inherit Metab Dis 2001 Aug;24(4):507-8. doi: 10.1023/a:1010537831567. PMID: 11596654
Coskun T, Erkul E, Seyrantepe V, Ozgüç M, Tokatli A, Ozalp I
J Inherit Metab Dis 1995;18(3):368-9. doi: 10.1007/BF00710438. PMID: 7474913

Prognosis

Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C
Int J Mol Sci 2023 Dec 12;24(24) doi: 10.3390/ijms242417388. PMID: 38139222Free PMC Article
Stettner NM, Cutler DJ, Fridovich-Keil JL
Mol Genet Metab 2023 Apr;138(4):107542. Epub 2023 Feb 21 doi: 10.1016/j.ymgme.2023.107542. PMID: 36848716Free PMC Article
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
Gubbels CS, Land JA, Rubio-Gozalbo ME
Obstet Gynecol Surv 2008 May;63(5):334-43. doi: 10.1097/OGX.0b013e31816ff6c5. PMID: 18419833
Fensom AH, Benson PF, Blunt S
Br Med J 1974 Nov 16;4(5941):386-7. doi: 10.1136/bmj.4.5941.386. PMID: 4154122Free PMC Article

Clinical prediction guides

Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C
Int J Mol Sci 2023 Dec 12;24(24) doi: 10.3390/ijms242417388. PMID: 38139222Free PMC Article
Stettner NM, Cutler DJ, Fridovich-Keil JL
Mol Genet Metab 2023 Apr;138(4):107542. Epub 2023 Feb 21 doi: 10.1016/j.ymgme.2023.107542. PMID: 36848716Free PMC Article
Marín-Quílez A, Di Buduo CA, Benito R, Balduini A, Rivera J, Bastida JM
Platelets 2023 Dec;34(1):2176699. Epub 2023 Feb 27 doi: 10.1080/09537104.2023.2176699. PMID: 36846897
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT
Genet Med 2021 Jan;23(1):202-210. Epub 2020 Aug 18 doi: 10.1038/s41436-020-00942-9. PMID: 32807972Free PMC Article
Fensom AH, Benson PF, Blunt S
Br Med J 1974 Nov 16;4(5941):386-7. doi: 10.1136/bmj.4.5941.386. PMID: 4154122Free PMC Article

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.

    Curated

    • ACMG ACT, 2021
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Absent/Reduced Galactose-1-Phosphate Uridyltransferase (GALT), Classic Galactosemia, 2021
    • ACMG Algorithm, 2021
      American College of Medical Genetics and Genomics, Algorithm, Galactosemia (GALT Deficiency), 2021

    Consumer resources