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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): Gene(s) directly associated with this condition or phenotype.	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

Show all Hide all

Abnormality of metabolism/homeostasis
- Hypergalactosemia
Abnormality of the digestive system
- Hepatomegaly
- Prolonged neonatal jaundice
Abnormality of the eye
- Cataract
Abnormality of the nervous system
- Global developmental delay

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGalactosemia 4

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Brain Diseases, Metabolic, Inborn
      - Galactosemia
        Galactosemia 4

Professional guidelines

PubMed

Newborn screening in the Philippines.

Padilla CD
Southeast Asian J Trop Med Public Health 2003;34 Suppl 3:87-8. PMID: 15906705

See all (1)

Curated

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

American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)

American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet Primary or Secondary Hypergalactosemia

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

See all (135)

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: 36615667 Free 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

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

Galactosemia: screening and diagnosis.

Beutler E
Clin Biochem 1991 Aug;24(4):293-300. doi: 10.1016/0009-9120(91)80003-l. PMID: 1959220

Galactosaemia.

Sardharwalla IB, Wraith JE
Nutr Health 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. PMID: 3328119

See all (239)

Therapy

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

Neonatal jaundice.

Scheig R
Am Fam Physician 1974 Oct;10(4):158-64. PMID: 4414786

See all (52)

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: 36615667 Free PMC Article

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

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

See all (74)

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: 37866059 Free 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: 36848716 Free PMC Article

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: 32807972 Free PMC Article

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Galactosaemia.

Sardharwalla IB, Wraith JE
Nutr Health 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. PMID: 3328119

See all (109)

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: 31808946 Free 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: 26589959 Free PMC Article

See all (3)

MedGen

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Galactosemia 4(GALAC4)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Curated

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

American College of Medical Genetics Algorithm, Primary or Secondary Hypergalactosemia (Galactose Elevated)

American College of Medical Genetics ACT Sheet, Newborn Screening ACT Sheet Primary or Secondary Hypergalactosemia

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Curated

Molecular resources

Consumer resources

Reviews

Related information

Recent activity