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Galactosemia III, severe

MedGen UID:
865485
•Concept ID:
C4017048
•
Disease or Syndrome
Synonym: GALACTOSEMIA III, SEVERE
 
OMIM®: 606953

Professional guidelines

PubMed

Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. PMID: 32567677Free PMC Article
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. PMID: 29274129Free PMC Article
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

Recent clinical studies

Etiology

Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. PMID: 32567677Free PMC Article
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S
Am J Hum Genet 2020 Feb 6;106(2):256-263. Epub 2020 Jan 30 doi: 10.1016/j.ajhg.2020.01.005. PMID: 32004446Free PMC Article
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. PMID: 29274129Free PMC Article
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM
J Biol Chem 2001 Jun 8;276(23):20617-23. Epub 2001 Mar 7 doi: 10.1074/jbc.M101304200. PMID: 11279193
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

Diagnosis

Simple and sensitive galactose monitoring based on capillary SERS sensor.
Heo EH, Chang H
Anal Bioanal Chem 2024 Jul;416(16):3811-3819. Epub 2024 May 3 doi: 10.1007/s00216-024-05322-9. PMID: 38702448
Long-term complications in classic galactosemia are not progressive.
Smith NH, Hendrickson ET, Garrett OS, Chernoff RA, Orloff DH, Druss JJ, Stettner NM, Paull NH, Fridovich-Keil JL
Mol Genet Metab 2023 Nov;140(3):107708. Epub 2023 Oct 11 doi: 10.1016/j.ymgme.2023.107708. PMID: 37866059Free PMC Article
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. PMID: 32567677Free PMC Article
Hereditary galactosemia.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT
Metabolism 2018 Jun;83:188-196. Epub 2018 Jan 31 doi: 10.1016/j.metabol.2018.01.025. PMID: 29409891
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. PMID: 29274129Free PMC Article

Therapy

Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. PMID: 32567677Free PMC Article
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. PMID: 29274129Free PMC Article
Galactosemia and amenorrhea in the adolescent.
Berry GT
Ann N Y Acad Sci 2008;1135:112-7. doi: 10.1196/annals.1429.038. PMID: 18574215
Hormone replacement therapy in galactosaemic twins with ovarian failure and severe osteoporosis.
Renner C, Razeghi S, Uberall MA, Licht P, Wildt L, Dörr HG, Hensen J, Schweitzer S
J Inherit Metab Dis 1999 Apr;22(2):194-5. doi: 10.1023/a:1005482826929. PMID: 10234619
Allopurinol kinetics in humans as a means to assess liver function: evaluation of an allopurinol loading test.
van Waeg G, Lööf L, Groth T, Niklasson F
Scand J Clin Lab Invest 1988 Feb;48(1):45-57. doi: 10.3109/00365518809085393. PMID: 3217748

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
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Stroek K, Bouva MJ, Schielen PCJI, Vaz FM, Heijboer AC, de Jonge R, Boelen A, Bosch AM
Mol Genet Metab 2018 May;124(1):50-56. Epub 2018 Mar 21 doi: 10.1016/j.ymgme.2018.03.008. PMID: 29580649
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
Galactosemia in infancy: diagnosis, management, and prognosis.
Chung MA
Pediatr Nurs 1997 Nov-Dec;23(6):563-9. PMID: 9429512

Clinical prediction guides

Simple and sensitive galactose monitoring based on capillary SERS sensor.
Heo EH, Chang H
Anal Bioanal Chem 2024 Jul;416(16):3811-3819. Epub 2024 May 3 doi: 10.1007/s00216-024-05322-9. PMID: 38702448
Long-term complications in classic galactosemia are not progressive.
Smith NH, Hendrickson ET, Garrett OS, Chernoff RA, Orloff DH, Druss JJ, Stettner NM, Paull NH, Fridovich-Keil JL
Mol Genet Metab 2023 Nov;140(3):107708. Epub 2023 Oct 11 doi: 10.1016/j.ymgme.2023.107708. PMID: 37866059Free PMC Article
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
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
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Wortmann SB, Meunier B, Mestek-Boukhibar L, van den Broek F, Maldonado EM, Clement E, Weghuber D, Spenger J, Jaros Z, Taha F, Yue WW, Heales SJ, Davison JE, Mayr JA, Rahman S
Am J Hum Genet 2020 Feb 6;106(2):256-263. Epub 2020 Jan 30 doi: 10.1016/j.ajhg.2020.01.005. PMID: 32004446Free PMC Article
Ocular findings in several metabolic diseases.
Wilson WA
Calif Med 1969 Dec;111(6):446-9. PMID: 5358977Free PMC Article

Recent systematic reviews

Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. PMID: 32567677Free PMC Article
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
Stroek K, Bouva MJ, Schielen PCJI, Vaz FM, Heijboer AC, de Jonge R, Boelen A, Bosch AM
Mol Genet Metab 2018 May;124(1):50-56. Epub 2018 Mar 21 doi: 10.1016/j.ymgme.2018.03.008. PMID: 29580649
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R
Cochrane Database Syst Rev 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. PMID: 29274129Free PMC Article

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