Epimerase-deficiency galactosemia is not a binary condition

American Journal of Human Genetics

Volumn 78, Issue 1, 2006, Pages 89-102

  Openo, Kimberly K ^a   Schulz, Jenny M ^b,j   Vargas, Claudia A ^a,k   Orton, Corey S ^b   Epstein, Michael P ^a   Schnur, Rhonda E ^c   Scaglia, Fernando ^d   Berry, Gerard T ^e   Gottesman, Gary S ^g   Ficicioglu, Can ^f   Slonim, Alfred E ^h   Schroer, Richard J ⁱ   Yu, Chunli ^a   Rangel, Vanessa E ^a   Keenan, Jennifer ^c   Lamance, Kerri ^d   Fridovich Keil, Judith L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY   (United States)

^c RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g SSM Cardinal Glennon Childrens Medical Center   (United States)

^h SSM Cardinal Glennon Children's Hospital ^*  (United States)

ⁱ GREENWOOD GENETIC CENTER   (United States)

^j Clinical Care Options LLC   (United States)

^k MEDICAL COLLEGE OF GEORGIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE; GALACTOSE; URIDINE DIPHOSPHATE GALACTOSE; URIDINE DIPHOSPHATE GLUCOSE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

ARTICLE; CELL CULTURE; CLINICAL ARTICLE; DIETARY INTAKE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GALACTOSEMIA; HUMAN; HUMAN CELL; LYMPHOBLAST; LYMPHOCYTE CULTURE; MALE; METABOLISM; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION;

EID: 29244438982     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/498985     Document Type: Article

References (45)

1. Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM (1998) Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J Inher Metab Dis 21:341-350
2. Alano A, Almashanu S, Maceratesi P, Reichardt J, Panny S, Cowan TM (1997) UDP-galactose-4-epimerase deficiency among African-Americans: evidence for multiple alleles. J Investig Med 45:191A
3. Davis L, Kuehl M, Battey J (1994) Basic methods in molecular biology. 2nd ed. Appleton and Lange, Norwalk, CT
4. Endres W, Shin YS (1990) Cataract and metabolic disease. J Inher Metab Dis 13:509-516
5. Ficicioglu C, Yager C, Segal S (2005) Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype. Mol Genet Metab 84:152-159
6. Gitzelmann R (1967) Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediatr Res 1:14-23
7. - (1972) Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Helv Paediat Acta 27:125-130
8. Gitzelmann R, Steimann B (1973) Uridine diphosphate galactose 4-epimerase deficiency. Helv Paediat Acta 28:497-510
9. Gitzelmann R, Steinmann B, Mitchell B, Haigis E (1977) Uridine diphosphate galactose 4′-epimerase deficiency. IV. Report of eight cases in three families. Helv Paediat Acta 31:441-452
10. Goppert (1917) Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin Wschr 54:473-477
11. 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
12. Holton JB, Walter JH, Tyfield LA (2000) Galactosaemia. In: Scriver CR, Beaudet AL, Sly SW, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) Metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1553-1587
13. Hotelling H, Pabst M (1936) Rank correlation and tests of significance involving no assumption of normality. Ann Math Statist 7:29-43
14. Kalckar HM (1965) Galactose metabolism and cell "sociology." Science 150:305-313
15. Kingsley D, Kozarsky KF, Hobbie L, Krieger M (1986a) Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant. Cell 44:749-759
16. Kingsley DM, Krieger M, Holton JB (1986b) Structure and function of low-density lipoprotein receptors in epimerase-deficient galactosemia. N Engl J Med 314:1257-1258
17. Kolmogorov A (1941) Confidence limits for an unknown distribution function. Ann Math Stat 12:461-463
18. Krieger M, Brown MS, Goldstein JL (1981) Isolation of Chinese hamster cell mutants defective in the receptor-mediated endocytosis of low density lipoprotein. J Mol Biol 150:167-184
19. Krieger M, Reddy P, Kozarsky K, Kingsley D, Hobbie L, Penman M (1989) Analysis of the synthesis, intracellular sorting, and function of glycoproteins using a mammalian cell mutant with reversible glycosylation defects. Methods Cell Biol 32:57-84
20. Kruskal W (1952) A nonparametric test for the several sample problem. Ann Math Stat 23:525-540
21. Levy H (1980) Screening for galactosemia. In: Burman D, Holton JB, Pennock CA (eds) Inherited disorders of carbohydrate metabolism. MTP Press, Lancaster, pp 133-139
22. Maceratesi P, Daude N, Dallapiccola B, Novelli G, Allen R, Okano Y, Reichardt J (1998) Human UDP-galactose 4′ epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Mol Genet Metab 63:26-30
23. Mayes J, Guthrie R (1968) Detection of heterozygotes for galactokinase deficiency in a human population. Biochem Genet 2:219-230
24. 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
25. Neitzel H (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73:320-326
26. Piller F, Hanlon MH, Hill RL (1983) Co-purification and characterization of UDP-glucose 4-epimerase and UDP-N-acetylglucosamine 4-epimerase from porcine submaxillary glands. J Biol Chem 258:10774-10778
27. 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 Genet 61:590-598
28. Robinson E, Kalckar H, Troedson H (1966) Metabolic inhibitions of mammaliam uridine diphosphate galactose-4-epimerase in cell cultures and tumor cells. J Biol Chem 241:2737-2758
29. Robinson EA, Kalckar HM, Troedsson H (1963) On the loss of uridine diphosphogalactose-4-epimerase activity in L cell cultures and in tumor cells. Biochem Biophys Res Com 13:313-319
30. Ross KL, Davis CN, Fridovich-Keil JL (2004) Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast. Mol Genet Metab 83:103-116
31. 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
32. Schulpis KH, Papakonstantinou ED, Koidou A, Michelakakis H, Tzamouranis J, Patsouras A, Shin Y (1993) UDP galactose-4-epimerase deficiency in a 5.5-year-old girl with a unilateral cataract. J Inher Metab Dis 16:903-904
33. Schulz J, Ross K, Malmstrom K, Krieger M, Fridovich-Keil J (2005) Mediators of galactose sensitivity in UDP-galactose 4′-epimerase-impaired mammalian cells. J Biol Chem 280:13493-13502
34. Schulz J, Watson A, Sanders R, Ross K, Thoden J, Holden H, Fridovich-Keil J (2004) Determinants of function and substrate specificity in human UDP-galactose 4′-epimerase. J Biol Chem 279:32796-32803
35. Shapiro S, Wilk M (1965) An analysis of variance test for normality (complete samples). Biometrika 52:591-611
36. Shin Y (1991) Diagnosis of galactosemia and the metabolites. In: Holmes FA (ed) Techniques in diagnostic human biochemical genetics: a laboratory manual. Wiley-Liss, New York, pp 280
37. Shin YS, Korenke GC, Huddke P, Knerr I, Podskarbi T (2000) UDPgalactose epimerase in lens and fibroblasts: activity expression in patients with cataracts and mental retardation. J Inherit Metab Dis 23:383-386
38. Smits HP, Cohen A, Buttler T, Nielsen J, Olsson L (1998) Cleanup and analysis of sugar phosphates in biological extracts by using solid-phase extraction and anion-exchange chromatography with pulsed amperometric detection. Anal Biochem 261:36-42
39. Waggoner DD, Buist NRM, Donnell GN (1990) Long-term prognosis in galactosemia: results of a survey of 350 cases. J Inher Metab Dis 13:802-818
40. Walter JH, Roberts REP, Besley GTN, Wraith JE, Cleary MA, Holton JB, MacFaul R (1999) Generalised uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 80:374-376
41. Wasilenko J, Lucas M, Thoden J, Holden H, Fridovich-Keil J (2005) Functional characterization of the K257R and G319E hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia. Mol Genet Metab 84:32-38
42. Wehrli S, Reynolds R, Chen J, Yager C, Segal S (2001) Galactose metabolism in normal human lymphoblasts studied by (1)H, (13)C and (31)P NMR spectroscopy of extracts. NMR Biomed 14:192-198
43. 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
44. 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 Genet 64:462-470
45. Yager C, Chen J, Reynolds R, Segal S (2003) Galactitol andgalactonate in red blood cells of galactosemic patients. Mol Genet Metab 80:283-289