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Galactosemia

MedGen UID:
8943
Concept ID:
C0016952
Disease or Syndrome
Synonym: Galactose intolerance
SNOMED CT: Galactosemia (190745006); Galactose intolerance (190749000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: GALT, GALK1, GALE
 
HPO: HP:0004919
Monarch Initiative: MONDO:0018116
OMIM® Phenotypic series: PS230400
Orphanet: ORPHA352

Disease characteristics

The term "galactosemia" refers to disorders of galactose metabolism that include classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia (not covered in this chapter). This GeneReview focuses on: Classic galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage, bleeding, and E coli sepsis in untreated infants. If a lactose-restricted diet is provided during the first ten days of life, the neonatal signs usually quickly resolve and the complications of liver failure, sepsis, and neonatal death are prevented; however, despite adequate treatment from an early age, children with classic galactosemia remain at increased risk for developmental delays, speech problems (termed childhood apraxia of speech and dysarthria), and abnormalities of motor function. Almost all females with classic galactosemia manifest hypergonadatropic hypogonadism or premature ovarian insufficiency (POI). Clinical variant galactosemia, which can result in life-threatening complications including feeding problems, failure to thrive, hepatocellular damage including cirrhosis, and bleeding in untreated infants. This is exemplified by the disease that occurs in African Americans and native Africans in South Africa. Persons with clinical variant galactosemia may be missed with newborn screening as the hypergalactosemia is not as marked as in classic galactosemia and breath testing is normal. If a lactose-restricted diet is provided during the first ten days of life, the severe acute neonatal complications are usually prevented. African Americans with clinical variant galactosemia and adequate early treatment do not appear to be at risk for long-term complications, including POI. [from GeneReviews]
Authors:
Gerard T Berry   view full author information

Additional description

From MedlinePlus Genetics
Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.

Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.

Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose.

Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency).  https://medlineplus.gov/genetics/condition/galactosemia

Conditions with this feature

Fructose and galactose intolerance
MedGen UID:
341598
Concept ID:
C1856686
Disease or Syndrome

Professional guidelines

PubMed

Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article

Curated

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

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, Transition to Adult Health Care ACT Sheet, Galactosemia (GALT Deficiency, Classical Galactosemia), 2012

Recent clinical studies

Etiology

Vergano SAS
Pediatr Rev 2022 Jul 1;43(7):371-383. doi: 10.1542/pir.2022-005088. PMID: 35773536
Anderson S
MCN Am J Matern Child Nurs 2018 Jan/Feb;43(1):44-51. doi: 10.1097/NMC.0000000000000388. PMID: 29215423
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article
Lee PA, Houk CP
Curr Opin Endocrinol Diabetes Obes 2013 Jun;20(3):210-6. doi: 10.1097/MED.0b013e32835ffc7d. PMID: 23493040
O'Connor NR
Am Fam Physician 2009 Apr 1;79(7):565-70. PMID: 19378873

Diagnosis

Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
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
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article

Therapy

Timson DJ
Gene 2016 Sep 10;589(2):133-41. Epub 2015 Jul 2 doi: 10.1016/j.gene.2015.06.077. PMID: 26143117
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
Lawrence RM
Pediatr Clin North Am 2013 Feb;60(1):295-318. Epub 2012 Oct 30 doi: 10.1016/j.pcl.2012.09.012. PMID: 23178071
Berry GT
Ann N Y Acad Sci 2008;1135:112-7. doi: 10.1196/annals.1429.038. PMID: 18574215
Friedmann T, Roblin R
Science 1972 Mar 3;175(4025):949-55. doi: 10.1126/science.175.4025.949. PMID: 5061866

Prognosis

Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
Badiu Tișa I, Achim AC, Cozma-Petruț A
Nutrients 2022 Dec 20;15(1) doi: 10.3390/nu15010010. PMID: 36615667Free PMC Article
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
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article
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

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
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
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
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
Reichardt JK
Hum Mutat 1992;1(3):190-6. doi: 10.1002/humu.1380010303. PMID: 1301925

Recent systematic reviews

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
Hermans ME, Welsink-Karssies MM, Bosch AM, Oostrom KJ, Geurtsen GJ
Orphanet J Rare Dis 2019 Oct 18;14(1):226. doi: 10.1186/s13023-019-1215-1. PMID: 31627760Free PMC Article
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
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet)
J Inherit Metab Dis 2017 Mar;40(2):171-176. Epub 2016 Nov 17 doi: 10.1007/s10545-016-9990-5. PMID: 27858262Free PMC Article
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

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    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 Algorithm, 2021
      American College of Medical Genetics and Genomics, Algorithm, Galactosemia (GALT Deficiency), 2021
    • 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 ACT, 2012
      American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Galactosemia (GALT Deficiency, Classical Galactosemia), 2012

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