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  • The following terms were not found in MedGen: beta4, beta4-GalT.

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

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S
Genet Med 2024 Aug;26(8):101165. Epub 2024 May 16 doi: 10.1016/j.gim.2024.101165. PMID: 38762772
Congenital portosystemic shunts in children: recognition, evaluation, and management.
Bernard O, Franchi-Abella S, Branchereau S, Pariente D, Gauthier F, Jacquemin E
Semin Liver Dis 2012 Nov;32(4):273-87. Epub 2013 Feb 8 doi: 10.1055/s-0032-1329896. PMID: 23397528
The live-birth prevalence of mucopolysaccharidoses in Estonia.
Krabbi K, Joost K, Zordania R, Talvik I, Rein R, Huijmans JG, Verheijen FV, Õunap K
Genet Test Mol Biomarkers 2012 Aug;16(8):846-9. Epub 2012 Apr 5 doi: 10.1089/gtmb.2011.0307. PMID: 22480138Free PMC Article
Cataract and metabolic disease.
Endres W, Shin YS
J Inherit Metab Dis 1990;13(4):509-16. doi: 10.1007/BF01799508. PMID: 2122117
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
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
Red cell enzymes.
Paniker NV
CRC Crit Rev Clin Lab Sci 1975 Mar;5(4):469-502. doi: 10.3109/10408367509107051. PMID: 166798
Genetic screening.
Levy HL
Adv Hum Genet 1973;4:1-104. doi: 10.1007/978-1-4615-8261-8_1. PMID: 4593296
Sugar intolerance.
Darmawan S
Paediatr Indones 1969 Jul-Aug;9(4):178-94. PMID: 4900353

Therapy

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
The dietary management of inborn errors of metabolism.
Collins JE, Leonard JV
Hum Nutr Appl Nutr 1985 Aug;39(4):255-72. PMID: 3900002
Overview of the current attempts toward the medical treatment of cataract.
Kador PF
Ophthalmology 1983 Apr;90(4):352-64. doi: 10.1016/s0161-6420(83)34562-0. PMID: 6348628
Neonatal jaundice.
Scheig R
Am Fam Physician 1974 Oct;10(4):158-64. PMID: 4414786

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
Classical galactosemia patients can achieve high IQ scores.
Iakovou K, Dotsikas Y, Loukas YL, Schulpis KH
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):399-401. doi: 10.1515/jpem-2018-0515. PMID: 30875330
Hepatic focal nodular hyperplasia with congenital portosystemic shunt.
Cho Y, Shimono T, Morikawa H, Shintaku H, Tokuhara D
Pediatr Int 2014 Dec;56(6):e102-e105. doi: 10.1111/ped.12456. PMID: 25521987
The human galactose-1-phosphate uridyltransferase gene.
Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ
Genomics 1992 Oct;14(2):474-80. doi: 10.1016/s0888-7543(05)80244-7. PMID: 1427861
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

Galactokinase deficiency: lessons from the GalNet registry.
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
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
Classical galactosemia patients can achieve high IQ scores.
Iakovou K, Dotsikas Y, Loukas YL, Schulpis KH
J Pediatr Endocrinol Metab 2019 Apr 24;32(4):399-401. doi: 10.1515/jpem-2018-0515. PMID: 30875330
Hepatic focal nodular hyperplasia with congenital portosystemic shunt.
Cho Y, Shimono T, Morikawa H, Shintaku H, Tokuhara D
Pediatr Int 2014 Dec;56(6):e102-e105. doi: 10.1111/ped.12456. PMID: 25521987
Defective galactosylation in galactosemia: is low cell UDPgalactose an explanation?
Segal S
Eur J Pediatr 1995;154(7 Suppl 2):S65-71. doi: 10.1007/BF02143806. PMID: 7671968

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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