Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Galactosemia

Galactosemia is an autosomal recessive disorder galactose catabolism which presents predominantly in the liver (hepatosplenomegaly, jaundice). The renal manifestation is a renotubular Fanconi syndrome.

Symptoms

Proximal tubular damage syndrome
Renal manifestation of galactosemia is a renotubular Fanconi syndrome.

Systematic

Metabolic disturbances of proximal tubular function
Cystinosis
Dent disease
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Fructose intolerance
Galactosemia
GALT
Glycogen storage disease 1
Hepatorenal tyrosinemia
Lowe disease
MELAS syndrome
Wilson disease

References:

1.

None (1979) Abstracts of meeting presentations.

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2.

Tedesco TA et al. (1975) The genetic defect in galactosemia.

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3.

Kaufman F et al. (1979) Ovarian failure in galactosaemia.

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4.

Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.

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5.

Mohandas T et al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

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6.

Westerveld A et al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.

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7.

Mohandas T et al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

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8.

Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

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9.

Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.

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10.

Ibarra B et al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

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11.

Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.

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12.

Benson PF et al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

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13.

Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

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14.

Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.

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15.

Meera Khan P et al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

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16.

Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

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17.

Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.

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18.

Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.

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19.

Gitzelmann R et al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.

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20.

Reichardt JK et al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

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21.

Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.

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22.

Reichardt JK et al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

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23.

Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

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24.

Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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25.

Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.

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26.

Brivet M et al. (1989) Effect of lactation in a mother with galactosemia.

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27.

Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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28.

Harley JD et al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

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29.

Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

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30.

Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

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31.

Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia.

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32.

Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

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33.

Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts.

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34.

Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation.

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35.

Kelly S et al. (1972) A Duarte variant with clinical signs.

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36.

Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"].

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37.

Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

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38.

None (1967) Clinical variants of galactosemia.

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39.

Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

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40.

Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.

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41.

Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

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42.

Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

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43.

Shih LY et al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

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44.

Eriksen B et al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

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45.

Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.

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46.

Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

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47.

Mulcahy MT et al. (1980) Where is the gene for GALT?

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48.

Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

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49.

Eydoux P et al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

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50.

Dagna Bricarelli F et al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

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51.

Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

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52.

Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

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53.

Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

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54.

Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.

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55.

Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.

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56.

Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

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57.

Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.

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58.

Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

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59.

Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

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60.

Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

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61.

Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.

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62.

Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia.

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63.

Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation.

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64.

Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.

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65.

Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

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66.

Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

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67.

Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

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68.

Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

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69.

Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

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70.

Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

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71.

Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

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72.

Magrangeas F et al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.

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73.

Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

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74.

Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

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75.

Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

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76.

de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

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77.

Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.

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78.

Elsas LJ et al. () The molecular biology of galactosemia.

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79.

Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

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80.

Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

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81.

Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

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82.

Webb AL et al. (2003) Verbal dyspraxia and galactosemia.

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83.

DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.

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84.

WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.

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85.

BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

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86.

Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.

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87.

None (2006) Classical galactosaemia revisited.

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88.

Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

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89.

Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

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90.

Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

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91.

OMIM.ORG article

Omim 230400 [^]
92.

Orphanet article

Orphanet ID 352 [^]
93.

Wikipedia article

Wikipedia EN (Galactosemia) [^]
Update: April 29, 2019