Galactosemia: The Good, the Bad, and the Unknown

Journal of Cellular Physiology

Volumn 209, Issue 3, 2006, Pages 701-705

  Fridovich Keil, Judith L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE;

CARBOHYDRATE METABOLISM; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ENZYME METABOLISM; ENZYME REGULATION; ESCHERICHIA COLI; GALACTOSEMIA; HUMAN; MAMMAL; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; SHORT SURVEY; SYMPTOM; TREATMENT OUTCOME;

ANIMALS; GALACTOSE; GALACTOSEMIAS; GLYCOLIPIDS; GLYCOPROTEINS; HUMANS;

MAMMALIA;

EID: 33750530816     PISSN: 00219541     EISSN: None     Source Type: Journal    
DOI: 10.1002/jcp.20820     Document Type: Short Survey

References (49)

1. Ai Y, Zheng Z, O'Brien-Jenkins A, Bernard DJ, Wynshaw-Boris T, Ning C, Reynolds R, Segal S, Huang K, Stambolian D. 2000. A mouse model of galactose-induced cataracts. Human Mol Gen 9:1821-1827.
2. 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.
3. Antshel K, Epstein I, Waisbren S. 2004. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: A descriptive study. Neuropsychology 18:658-664.
4. Berry GT. 1995. The role of polyols in the pathophysiology of hypergalactosemia. Eur J Pediatr 154 (Suppl 2):S53-S64.
5. Berry G, Moate P, Reynolds R, Yager C, Ning C, Boston R, Segal S. 2004. The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol Genet Metab 81:22-30.
6. Bhat PJ. 2003. Galactose-1-phosphate is a regulator of inositol monophosphatase: A fact or a fiction? Med Hypotheses 60:123-128.
7. Charlwood J, Clayton P, Keir G, Mian N, Winchester B. 1998. Defective galactosylation of serum transferrin in galactosemia. Glycobiology 8:351-357.
8. Douglas HC, Hawthorne DC. 1964. Enzymatic expression and genetic linkage of genes controlling galactose utilization in Saccharomyces. Genetics 49:837-844.
9. Freeze H, Aebi M. 2005. Altered glycan structures: The molecular basis of congenital disorders of glycosylation. Curr Opin Struct Biol 15:490-498.
10. Gitzelmann R. 1972. Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Helv paediat Acta 27:125-130.
11. Gitzelmann R. 1995. Galactose-1-phosphate in the pathophysiology of galactosemia. Eur J Pediatrics 154 (Suppl 2):S45-S49.
12. Gitzelmann R, Steimann B. 1973. Uridine diphosphate galactose 4-epimerase deficiency. Helv paediat Acta 28:497-510.
13. Gitzelmann R, Steinmann B, Mtchell B, Haigis E. Uridine diphosphate galactose 4′-epimerase deficiency. Helv paediat Acta 31:441-452.
14. Haberland C, Perou M, Brunngraber EG, Hof H. 1971. The neuropathology of galactosemia: A histopathological and biochemical study. J Neurophatol Exp Neurol 30:431-447.
15. Holden HM, Rayment I, Thoden JB. 2003. Structure and function of enzymes of the Leloir pathway for galactose metabolism. J Biol Chem 278:43885-43888.
16. 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.
17. Holton JB, Walter JH, Tyfield LA. 2000. Galactosaemia. In: Scriver CR, Beaudet AL, Sly SW, Valle D, Childs B, Kinzler KW, Vogelstein B, editors. Metabolic and Molecular Bases of Inherited Disease. 8th edition. New York: McGraw Hill, pp 1553-1587.
18. Jaeken J, Kint J, Spaapen L. 1992. Serum lysosomal enzyme abnormalities in galactosaemia. Lancet 340:1472-1473.
19. Kaufman FR, Xu Y-K, Ng WG, Donnell GN. 1988. Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. J Pediat 112:754-756.
20. Lai K, Langley S, Khwaja F, Schmitt E, Elsas L. 2003. GALT deficiency causes UDP-hexose deficit in human galactosemic cells. Glycobiology 13:285-294.
21. Lebea P, Pretorius P. 2005. The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: A possible cause for poor long-term prognosis in classic galactosemia. Med Hypotheses 65:1051-1057.
22. Leslie ND. 2003. Insights into the pathogenesis of galactosemia. Annu Rev Nutr 23:59-80.
23. Leslie ND, Yager KL, McNamara PD, Segal S. 1996. A mouse model of galactose-1-phosphate uridyl transferase deficiency. Biochem Mol Med 59:7-12.
24. Levy H. 1980. Screening for galactosemia. In: Burman DHJ, Pennocl CA, editors. Inherited Disorders of Carbohydrate Metabolism. Lancaster: MTP. pp 133-139.
25. Mayes JS, Miller LR. 1973. The metabolism of galactose by galactosemia fibroblasts. Biochim Biophys Acta 313:9-16.
26. Menezo Y, Lescaille M, Nicollet B, Servy E. 2004. Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: Case report. J Assist Reprod Genet 21:89-90.
27. Ng WG, Xu Y-K, Kaufman FR, Lee JES, Donnell GN. 1991. Biochemical and clinical heterogeneity among 358 galactosemia patients. In: Wilcken B, Webster D, editors. Neonatal screening in the nineties 8th International Neonatal Screening Symposium and Inaugural Meeting of the International Society for Neonatal Screening, pp 181-188.
28. Openo K, Schulz J, Vargas C, Orton C, Epstein M, Schnur R, Scaglia F, Berry G, Gottesman G, Ficicioglu C, Slonim A, Shroer R, Yu C, Rangel V, Kenan J, Lamance K, Fridovich-Keil J. 2006. Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet 78:89-102.
29. Parthasarathy R, Parthasarathy L, Vadnal R. 1997. Brain inositol monophosphatase identified as a galactose-1-phosphatase. Brain Res 778:99-106.
30. Petry K, Greinix HT, Nudelman E, Eisen H, Hakomori S, Levy HL, Reichardt JKV. 1991. Characterization of a novel biochemical abnormality in galactosemia: Deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochem Med and Metab Biol 46:93-104.
31. 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.
32. Prestoz L, Couto A, Shin Y, Petry K. 1997. Altered follicle stimulating hormone isoforms in female galactosaemia patients. Eur J Pediatr 156(2):116-120.
33. 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.
34. 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.
35. Schulpis KH, Michelakakis H, Charokopos E, Papakonstantinou E, Messaritakis J, Shin Y. 1993. UDP-galactose-4-epimerase in a boy with trisomy 21. J Inher Metab Dis 16:1059-1060.
36. 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.
37. Segal S. 1995. Defective galactosylation in galactosemia: Is low cell UDP galactose an explanation? Eur J Pediatr 154 (Suppl 2):S65-S71.
38. Shin YS, Korenke GC, Huddke P, Knerr I, Podskarbi T. 2000. UDP galactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation. J Inherit Metab Dis 23:383-386.
39. Stibler H, von Dobeln U, Kristiansson B, Guthenberg C. 1997. Carbohydrate-deficient transferrin in galactosaemia. Acta Paediatr 86:1377-1378.
40. Sturiale L, Barone R, Fiumara A, Perez M, Zaffanello M, Sorge G, Pavone L, Tortorelli S, O'brien J, Jaeken J, Garozzo D. 2005. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology [Epub ahead of print].
41. Tyfield L, Walter J. 2002. Galactosemia. In: Scriver C, Beaudet A, Sly W, Valle D, Childs B, Kinzler K, Vogelstein B, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill.
42. 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.
43. 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.
44. Wells WW, Pittman TA, Wells HJ, Egan TJ. 1965. The isolation and identification of galactitol from the brains of galactosemic patients. J Biol Chem 240:1002-1004.
45. Wells WW, McIntyre JP, Schlichter DJ, Wacholtz MC, Spieker SE. 1969. Studies of myo-inositol metabolism in galactosemia. Ann NY Acad Sci 165:599-608.
46. Witting L, Haberland C, Brunngraber E. 1972. Ganglioside patterns in galactosemia. Clin Chim Acta 37:387-389.
47. Xu Y-K, Kaufman FR, Donnell GN, Giudici T, Alfi O, Ng WG. 1995a. HPLC analysis of uridine diphosphate sugars: Decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classical galactosemia patients. Clinica Chimica Acta 240:21-33.
48. Xu Y-K, Kaufman FR, Donnell GN, Ng WG. 1995b. Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients. Clin Chim Acta 235:125-136.
49. Zaffanello M, Zamboni G, Schadewaldt P, Borgiani P, Novelli G. 2005. Neonatal screening, clinical features and genetic testing for galactosemia. Genet Med 7:211-212.