Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control

Molecular Genetics and Metabolism

Volumn 103, Issue 3, 2011, Pages 249-253

  Krabbi, K ^a,b   Uudelepp, M L ^c   Joost, K ^d,e   Zordania, R ^d   Ounap, K ^c,e  

^a TALLINN UNIVERSITY OF TECHNOLOGY   (Estonia)

^b Chemistry Laboratory of Central Laboratory of Health Board   (Estonia)

^c TARTU UNIVERSITY HOSPITAL   (Estonia)

^d TALLINN CHILDREN S HOSPITAL   (Estonia)

^e UNIVERSITY OF TARTU   (Estonia)

Author keywords

Classical galactosemia; Diet; Galactitol; Galactose; GALT

Indexed keywords

CREATININE; GALACTITOL; HORMONE; LACTOSE;

ADOLESCENT; ARTICLE; ATAXIA; CATARACT; CHILD; COGNITIVE DEFECT; ESTONIA; EXTRAPYRAMIDAL SYMPTOM; FEMALE; FOCAL EPILEPSY; GALACTOSEMIA; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HORMONE SUBSTITUTION; HUMAN; LOW CARBOHYDRATE DIET; MALE; MENTAL DEFICIENCY; METABOLIC REGULATION; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; OBESITY; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SCHOOL CHILD; SPASTICITY; SPEECH DISORDER; URINARY EXCRETION;

ADOLESCENT; CHILD; DIET; ESTONIA; FEMALE; GALACTITOL; GALACTOSE; GALACTOSEMIAS; GENOTYPE; HUMANS; LACTOSE; MALE; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 79958033474     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.03.023     Document Type: Article

References (37)

1. Segal S., Berry G.T. Disorders of galactose metabolism. The Metabolic and Molecular Bases of Inherited Disease 1995, 967-1000. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet (Eds.).
2. Bosch A.M. Classical galactosaemia revisited. J. Inherit. Metab. Dis. 2006, 29:516-525.
3. Ounap K., Joost K., Temberg T., Krabbi K., Tonisson N. Classical galactosemia in Estonia: selective neonatal screening, incidence, and genotype/phenotype data of diagnosed patients. J. Inherit. Metab. Dis. 2010, 33:175-176.
4. Tyfield L., Carmichael D. The galactose-1-phosphate uridyl transferase mutation analysis database homepage. GALTdb 2006.
5. Flanagan J.M., McMahon G., Brendan Chia S.H., Fitzpatrick P., Tighe O., O'Neill C., Briones P., Gort L., Kozak L., Magee A., Naughten E., Radomyska B., Schwartz M., Shin J.S., Strobl W.M., Tyfield L.A., Waterham H.R., Russell H., Bertorelle G., Reichardt J.K., Mayne P.D., Croke D.T. The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations. Heredity 2009, 104:148-154.
6. Calderon F.R., Phansalkar A.R., Crockett D.K., Miller M., Mao R. Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene. Hum. Mutat. 2007, 28:939-943.
7. Tyfield L., Reichardt J., Fridovich-Keil J., Croke D.T., Elsas L.J., Strobl W., Kozak L., Coskun T., Novelli G., Okano Y., Zekanowski C., Shin Y., Boleda M.D. Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum. Mutat. 1999, 13:417-430.
8. Berry G.T., Moate P.J., Reynolds R.A., Yager C.T., Ning C., Boston R.C., Segal S. The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol. Genet. Metab. 2004, 81:22-30.
9. Bosch A.M., Bakker H.D., Wenniger-Prick L.J., Wanders R.J., Wijburg F.A. High tolerance for oral galactose in classical galactosaemia: dietary implications. Arch. Dis. Child. 2004, 89:1034-1036.
10. Schadewaldt P., Kamalanathan L., Hammen H.W., Wendel U. Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol. Genet. Metab. 2004, 81:31-44.
11. Berry G.T., Palmieri M., Gross K.C., Acosta P.B., Henstenburg J.A., Mazur A., Reynolds R., Segal S. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J. Inherit. Metab. Dis. 1993, 16:91-100.
12. Roe T.F., Ng W.G., Smit P.G.A. Disorders of carbohydrate and glycogen metabolism. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases 2003, 335-355. N. Blau, M. Duran, M.E. Blascovics (Eds.).
13. Berry G.T., Elsas L.J. Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. J. Inherit. Metab. Dis. 2011, 34:249-255.
14. Fox P.F., Lucey J.A., Cogan T.M. Glycolysis and related reactions during cheese manufacture and ripening. Crit. Rev. Food Sci. Nutr. 1990, 29:237-253.
15. Thompson S.M., Netting M.J., Jerath S., Wiley V. Effect of a less restricted diet in galactosemia. J. Inherit. Metab. Dis. 2003, 26:214.
16. Waggoner D.D., Buist N.R., Donnell G.N. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J. Inherit. Metab. Dis. 1990, 13:802-818.
17. Hutchesson A.C., Murdoch-Davis C., Green A., Preece M.A., Allen J., Holton J.B., Rylance G. Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations. J. Inherit. Metab. Dis. 1999, 22:139-148.
18. Guerrero N.V., Singh R.H., Manatunga A., Berry G.T., Steiner R.D., Elsas L.J. Risk factors for premature ovarian failure in females with galactosemia. J. Pediatr. 2000, 137:833-841.
19. Kaufman F.R., McBride-Chang C., Manis F.R., Wolff J.A., Nelson M.D. Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Eur. J. Pediatr. 1995, 154:S2-S5.
20. Leonard J.V., Holton J.B. Galactosaemia. Lancet 1995, 345:581.
21. Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur. J. Pediatr. 2003, 162(Suppl 1):S50-S53.
22. Schweitzer S., Shin Y., Jakobs C., Brodehl J. Long-term outcome in 134 patients with galactosaemia. Eur. J. Pediatr. 1993, 152:36-43.
23. Shield J.P., Wadsworth E.J., MacDonald A., Stephenson A., Tyfield L., Holton J.B., Marlow N. The relationship of genotype to cognitive outcome in galactosaemia. Arch. Dis. Child. 2000, 83:248-250.
24. Honeyman M.M., Green A., Holton J.B., Leonard J.V. Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90. Arch. Dis. Child. 1993, 69:339-341.
25. Kaufman F.R., Reichardt J.K., Ng W.G., Xu Y.K., Manis F.R., McBride-Chang C., Wolff J.A. Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. J. Pediatr. 1994, 125:225-227.
26. Robertson A., Singh R.H., Guerrero N.V., Hundley M., Elsas L.J. Outcomes analysis of verbal dyspraxia in classic galactosemia. Genet. Med. 2000, 2:142-148.
27. Webb A.L., Singh R.H., Kennedy M.J., Elsas L.J. Verbal dyspraxia and galactosemia. Pediatr. Res. 2003, 53:396-402.
28. Schadewaldt P., Hoffmann B., Hammen H.W., Kamp G., Schweitzer-Krantz S., Wendel U. Longitudinal assessment of intellectual achievement in patients with classical galactosemia. Pediatrics 2010, 125:e374-e381.
29. Berry G.T. Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?. J. Inherit. Metab. Dis. 2011, 34:345-355.
30. Berry G.T., Nissim I., Lin Z., Mazur A.T., Gibson J.B., Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 1995, 346:1073-1074.
31. Coman D.J., Murray D.W., Byrne J.C., Rudd P.M., Bagaglia P.M., Doran P.D., Treacy E.P. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr. Res. 2010, 67:286-292.
32. Hughes J., Ryan S., Lambert D., Geoghegan O., Clark A., Rogers Y., Hendroff U., Monavari A., Twomey E., Treacy E.P. Outcomes of siblings with classical galactosemia. J. Pediatr. 2009, 154:721-726.
33. Bosch A.M. Classic galactosemia: dietary dilemmas. J. Inherit. Metab. Dis. 2011, 34:257-260.
34. Walter J.H., Collins J.E., Leonard J.V. Recommendations for the management of galactosaemia. Arch. Dis. Child. 1999, 80:93-96.
35. Thompson S.M., Netting M.J., Jerath S., Wiley V. Effect of a less restricted diet in galactosemia. J. Inherit. Metab. Dis. 2003, 26:214.
36. Lee P.J., Lilburn M., Wendel U., Schadewaldt P. A woman with untreated galactosaemia. Lancet 2003, 362:446.
37. Lai K., Langley S.D., Khwaja F.W., Schmitt E.W., Elsas L.J. GALT deficiency causes UDP-hexose deficit in human galactosemic cells. Glycobiology 2003, 13:285-294.