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Galactosemia 4(GALAC4)

MedGen UID:
1718159
•Concept ID:
C5394377
•
Disease or Syndrome
Synonyms: GALACTOSE MUTAROTASE DEFICIENCY; GALACTOSEMIA IV
SNOMED CT: Galactosemia type 4 (1187616008); GALM (galactose mutarotase) deficiency (1187616008); Deficiency of galactose mutarotase (1187616008)
 
Gene (location): GALM (2p22.1)
 
Monarch Initiative: MONDO:0030105
OMIM®: 618881
Orphanet: ORPHA570422

Definition

Galactosemia IV (GALAC4) is an inborn error of galactose metabolism that presents in the neonatal period. Of the 8 affected children that have thus far been reported, none had gastrointestinal symptoms or severe liver dysfunction. Two had bilateral cataracts. All had normal growth and development (summary by Wada et al., 2019). For a discussion of genetic heterogeneity of galactosemia, see GALAC1 (230400). [from OMIM]

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
Prolonged neonatal jaundice
MedGen UID:
347108
•Concept ID:
C1859236
•
Finding
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Hypergalactosemia
MedGen UID:
892325
•Concept ID:
C4023071
•
Finding
Elevated concentration of galactose in the blood.
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGalactosemia 4

Recent clinical studies

Etiology

Genetic conditions impairing female fertility.
Mastellari E, La Marca A
Panminerva Med 2020 Dec;62(4):260-267. Epub 2020 Nov 13 doi: 10.23736/S0031-0808.20.04208-1. PMID: 33185415
GALT Deficiency Galactosemia.
Anderson S
MCN Am J Matern Child Nurs 2018 Jan/Feb;43(1):44-51. doi: 10.1097/NMC.0000000000000388. PMID: 29215423
Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME
Fertil Steril 2017 Jul;108(1):168-174. Epub 2017 Jun 1 doi: 10.1016/j.fertnstert.2017.05.013. PMID: 28579413
Galactosaemia.
Sardharwalla IB, Wraith JE
Nutr Health 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. PMID: 3328119
Perinatal galactose metabolism.
Kliegman RM, Sparks JW
J Pediatr 1985 Dec;107(6):831-41. doi: 10.1016/s0022-3476(85)80173-6. PMID: 3906069

Diagnosis

The Importance of Neonatal Screening for Galactosemia.
Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
Çelik M, Akdeniz O, Ozbek MN, Kirbiyik O
J Trop Pediatr 2022 Oct 6;68(6) doi: 10.1093/tropej/fmac098. PMID: 36375035
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
GALT Deficiency Galactosemia.
Anderson S
MCN Am J Matern Child Nurs 2018 Jan/Feb;43(1):44-51. doi: 10.1097/NMC.0000000000000388. PMID: 29215423
Galactosaemia.
Sardharwalla IB, Wraith JE
Nutr Health 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. PMID: 3328119

Therapy

Oxidation of independent and combined ingested galactose and glucose during exercise.
Odell OJ, Impey SG, Shad BJ, Podlogar T, Salgueiro RB, Rowlands DS, Wallis GA
J Appl Physiol (1985) 2022 Nov 1;133(5):1166-1174. Epub 2022 Oct 6 doi: 10.1152/japplphysiol.00105.2022. PMID: 36201325Free PMC Article
The molecular basis of galactosemia - Past, present and future.
Timson DJ
Gene 2016 Sep 10;589(2):133-41. Epub 2015 Jul 2 doi: 10.1016/j.gene.2015.06.077. PMID: 26143117
Galactose metabolism and health.
Coelho AI, Berry GT, Rubio-Gozalbo ME
Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):422-7. doi: 10.1097/MCO.0000000000000189. PMID: 26001656
Purple sweet potato colour--a potential therapy for galactosemia?
Timson DJ
Int J Food Sci Nutr 2014 Jun;65(4):391-3. Epub 2013 Nov 26 doi: 10.3109/09637486.2013.860586. PMID: 24279733
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

Prognosis

The Importance of Neonatal Screening for Galactosemia.
Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME
Fertil Steril 2017 Jul;108(1):168-174. Epub 2017 Jun 1 doi: 10.1016/j.fertnstert.2017.05.013. PMID: 28579413
Bone health in primary ovarian insufficiency.
Marino R, Misra M
Semin Reprod Med 2011 Jul;29(4):317-27. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280917. PMID: 21969266
Galactosaemia.
Sardharwalla IB, Wraith JE
Nutr Health 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. PMID: 3328119
Perinatal galactose metabolism.
Kliegman RM, Sparks JW
J Pediatr 1985 Dec;107(6):831-41. doi: 10.1016/s0022-3476(85)80173-6. PMID: 3906069

Clinical prediction guides

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
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
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
Hand fine motor control in classic galactosemia.
MacWilliams J, Patel S, Carlock G, Vest S, Potter NL, Fridovich-Keil JL
J Inherit Metab Dis 2021 Jul;44(4):871-878. Epub 2021 Mar 23 doi: 10.1002/jimd.12376. PMID: 33720431Free PMC Article
Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME
Fertil Steril 2017 Jul;108(1):168-174. Epub 2017 Jun 1 doi: 10.1016/j.fertnstert.2017.05.013. PMID: 28579413
Galactosaemia.
Sardharwalla IB, Wraith JE
Nutr Health 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. PMID: 3328119

Recent systematic reviews

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Haskovic M, Coelho AI, Bierau J, Vanoevelen JM, Steinbusch LKM, Zimmermann LJI, Villamor-Martinez E, Berry GT, Rubio-Gozalbo ME
J Inherit Metab Dis 2020 May;43(3):392-408. Epub 2020 Jan 14 doi: 10.1002/jimd.12202. PMID: 31808946Free PMC Article
Appropriateness of newborn screening for classic galactosaemia: a systematic review.
Varela-Lema L, Paz-Valinas L, Atienza-Merino G, Zubizarreta-Alberdi R, Villares RV, López-García M
J Inherit Metab Dis 2016 Sep;39(5):633-649. Epub 2016 Apr 26 doi: 10.1007/s10545-016-9936-y. PMID: 27116003
Etiologies of conjugated hyperbilirubinemia in infancy: a systematic review of 1692 subjects.
Gottesman LE, Del Vecchio MT, Aronoff SC
BMC Pediatr 2015 Nov 20;15:192. doi: 10.1186/s12887-015-0506-5. PMID: 26589959Free 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.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2022
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated total galactose with normal GALT enzyme activity, Primary or Secondary Hypergalactosemia, 2022
    • ACMG Algorithm, 2022
      American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)
    • ACMG ACT, 2022
      American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet Primary or Secondary Hypergalactosemia

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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