A case study of monozygotic twins apparently homozygous for a novel variant of UDP-Galactose 4′-epimerase (GALE): A complex case of variant GALE

JIMD Reports

Volumn 7, Issue , 2013, Pages 89-98

  Liu, Ying ^a   Bentler, Kristi ^b   Coffee, Bradford ^a   Chhay, Juliet S ^a   Sarafoglou, Kyriakie ^b   Fridovich Keil, Judith L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Biliary atresia; Gale activity; Galt activity; Leloir pathway; Williams syndrome

Indexed keywords

EID: 84878643417     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_153     Document Type: Chapter

References (36)

1. Adzhubei I, Schmidt S, Peshkin L et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249
2. Alano A, Almashanu S, Chinsky JM et al (1998) Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J Inher Metab Dis 21:341–350
3. Bang Y, Nguyen T, Trinh T, Kim Y, Song J, Song Y (2009) Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells. FEBS J 276:1952–1961
4. Chhay J, Openo K, Eaton J, Gentile M, Fridovich-Keil J (2008a) A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransfer-ase segregating in a single family. J Inherit Metab Dis 31:97–107
5. Chhay J, Vargas C, McCorvie T, Fridovich-Keil J, Timson D (2008b) Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia. J Inherit Metab Dis 31:108–116
6. Frey PA (1996) The Leloir pathway: a mechanistic imperative for three enzymes to change the sterochemical configuration of a single carbon in galactose. The FASEB 10:461–470
7. Fridovich-Keil JL, Walter JH (2008) Galactosemia. In: D Valle, A Beaudet, B Vogelstein, K Kinzler, S Antonarakis, and A Ballabio (eds) The online metabolic & molecular bases of inherited disease. McGraw Hill, Columbus, OH http://www.ommbid.com/
8. Fridovich-Keil JL, Bean L, He M, Schroer R (2011) Epimerase Deficiency Galactosemia. In: RA Pagon, TD Bird, CR Dolan, K Stephens, and MP Adam (eds) GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993
9. Gitzelmann R, Steimann B (1973) Uridine diphosphate galactose 4-epimerase deficiency. Helv Paediat Acta 28:497–510
10. Gitzelmann R, Steinmann B, Mitchell B, Haigis E (1976) Uridine diphosphate galactose 4'-epimerase deficiency. Helv Paediat Acta 31:441–452
11. Henderson JM, Huguenin SM, Cowan TM, Fridovich-Keil JL (2001) A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia. Clin Genetics 60(5):350–355
12. Henderson MJ, Holton JB (1983) Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. J Inher Metab Dis 6:17–20
13. Holton JB, Gillett MG, MacFaul R, Young R (1981) Galactosemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 56:885–887
14. Maceratesi P, Dallapiccola B, Novelli G, Okano Y, Isshiki G, Reichardt JKV (1996) Missense mutations in Japanese patients with epimerase deficiency galactosemia. Am J Hum Gen 59((Supplement)):A204
15. Maceratesi P, Daude N, Dallapiccola B et al (1998) Human UDP-Galactose 4' Epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Molecular Genetics Metabolism 63:26–30
16. Mitchell B, Haigis E, Steinmann B, Gitzelmann R (1975) Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. Proc Nat Acad Sci 72:5026–5030
17. Neitzel H (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320–326
18. Ng P, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812–3814
19. Ono H, Mawatari H, Mizoguchi N, Eguchi T, Sakura N, Hamakawa M (1999) Transient galactosemia detected by neonatal mass screening. Pediatr Int 41:281–284
20. Openo K, Schulz J, Vargas C et al (2006) Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet 78:89–102
21. Park H, Park K, Kim J et al (2005) The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients. Genet Med 7:646–649
22. Quimby BB, Alano A, Almashanu S, DeSandro AM, Cowan TM, Fridovich-Keil JL (1997) Characterization of two mutations associated with epimerase-deficiency galactosemia using a yeast expression system for human UDP-galactose-4-epimerase. Am J Hum Gen 61:590–598
23. Ross KL, Davis CN, Fridovich-Keil JL (2004) Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast. Mol Gen Metab 83:103–116
24. Sanders R, Sefton J, Moberg K, Fridovich-Keil J (2010) UDP-galactose 4' epimerase (GALE) is essential for development of Drosophila melanogaster. Dis Model Mech 3(9–10):628–638
25. Sardharwalla IB, Wraith JE, Bridge C, Fowler B, Roberts SA (1988) A patient with severe type of epimerase deficiency galactosemia. J Inher Metab Dis 11:249–251
26. Sarkar M, Bose S, Mondal G, Chatterjee S (2010) Generalized epimerase deficiency galactosemia. Indian J Pediatr 77(8): 909–910
27. Shin Y (1991) In: Holmes F (ed) Techniques in diagnostic human biochemical genetics: a laboratory manual. Wiley-Liss, New York, pp 267–283
28. Thoden JB, Frey PA, Holden HM (1996) Molecular structure of the NADH/UDP-glucose abortive complex of UDP-galactose 4-epimerase from Escherichia coli: implications for the catalytic mechanism. Biochemistry 35(16):5137–5144
29. Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM (2001a) Human UDP-galactose 4-epimerase: accommodation of UDP-N-acetylglucosamine within the active site. J Biol Chem 276:15131–15136
30. Thoden JB, Wohlers TM, Fridovich-Keil JL, Holden HM (2001b) Molecular basis for severe epimerase-deficiency galactosemia: X-ray structure of the human V94M-substituted UDP-galactose 4-epimerase. J Biol Chem 276:20617–20623
31. Thomas P, Campbell M, Kejariwal A et al (2003) PANTHER: a library of protein families and subfamilies indexed by function. Genome Res 13:2129–2141
32. Timson D (2005) Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase. FEBS J 272:6170–6177
33. Walter JH, Roberts REP, Besley GTN et al (1999) Generalised uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 80:374–376
34. Wasilenko J, Fridovich-Keil J (2006) Relationship between UDP galactose 4'-epimerase activity and galactose sensitivity in yeast. J Biol Chem 281:8443–8449
35. Wohlers T, Fridovich-Keil JL (2000) Studies of the V94M-substituted human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosemia. J Inher Metab Dis 23:713–729
36. Wohlers TM, Christacos NC, Harreman MT, Fridovich-Keil JL (1999) Identification and characterization of a mutation, in the human UDP galactose-4-epimerase gene. Associated with generalized epimerase-deficiency galactosemia. Am J Hum Gen 64:462–470