Classical galactosaemia in Ireland: Incidence, complications and outcomes of treatment

Journal of Inherited Metabolic Disease

Volumn 36, Issue 1, 2013, Pages 21-27

  Coss, K P ^a   Doran, P P ^a   Owoeye, C ^b   Codd, M B ^c   Hamid, N ^c   Mayne, P D ^b   Crushell, E ^b   Knerr, I ^b   Monavari, A A ^b   Treacy, E P ^b,d  

^a MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

^b CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^c UNIVERSITY COLLEGE DUBLIN   (Ireland)

^d TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ADULT; ARTICLE; ATAXIA; CATARACT; CHILD; CLINICAL EVALUATION; DIET RESTRICTION; FEMALE; GALACTOSEMIA; GENE MUTATION; GENOTYPE; HOMOZYGOTE; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; INCIDENCE; INFANT; INTELLECTUAL IMPAIRMENT; IRELAND; LANGUAGE DISABILITY; MAJOR CLINICAL STUDY; MALE; NEWBORN SCREENING; OSTEOPENIA; OSTEOPOROSIS; OUTCOME ASSESSMENT; PRESCHOOL CHILD; SCHOOL CHILD; SPEECH DISORDER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GALACTOSEMIAS; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; IRELAND; MALE; MIDDLE AGED; NEONATAL SCREENING; RETROSPECTIVE STUDIES; TIME; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84872618213     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9507-9     Document Type: Article

References (30)

1. Antshel KM, Epstein IO, Waisbren SE (2004) Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology 18(4):658-664
2. Badawi N, Cahalane SF, McDonald M, Mulhair P, Begi B, O'Donohue A, Naughten E (1996) Galactosaemia - a controversial disorder. Screening & outcome. Ireland 1972-1992. Ir Med J 89(1):16-17
3. Berry GT (2011) Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia? J Inherit Metab Dis 34(2):345-355
4. Berry GT, Nissim I, Lin Z, Mazur AT, Gibson JB, Segal S (1995) Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 346(8982):1073-1074
5. Breen KC, Coughlan CM, Hayes FD (1998) The role of glycoproteins in neural development function, and disease. Mol Neurobiol 16(2):163-220
6. Coman DJ, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, Treacy EP (2010) Galactosemia, a single gene disorder with epigenetic consequences. Pediatr Res 67:286-292
7. Coss KP, Byrne JC, Coman DJ, Adamczyk B, Abrahams JL, Saldova R, Brown AY, Walsh O, Hendroff U, Carolan C, Rudd PM, Treacy EP (2012) IgG N-glycans as potential biomarkers for determining galactose tolerance in classical galactosaemia. Mol Genet Metab 105(2):212-220
8. EGS (2003) Galactosaemia in Europe a comparsion. European Galactosaemia society. European Galactosaemia Society, vol. EGS News No.6
9. Fridovich-Keil JL, Walter JH (2008) Galactosaemia chapter 72. The Online Metabolic and Molecular Bases of Inherited Disease, OMMBID. McGraw Hill, New York
10. Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E (2011) Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis 34(2):357-366
11. Grosse SD, Boyle CA, Kenneson A, Khoury MJ, Wilfond BS (2006) From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics 117(3):923-929
12. Gubbels CS, Land JA, Rubio-Gozalbo ME (2008) Fertility and impact of pregnancies on the mother and child in classic galactosemia. Obstet Gynecol Surv 63(5):334-343
13. Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP (2009) Outcomes of siblings with classical galactosemia. J Pediatr 154(5):721-726
14. Krabbi K, Uudelepp ML, Joost K, Zordania R, Ounap K (2011) Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control. Mol Genet Metab
15. Lai K, Langley SD, Khwaja FW, Schmitt EW, Elsas LJ (2003) GALT deficiency causes UDP-hexose deficit in human galactosemic cells. Glycobiology 13(4):285-294
16. Lai K, Tang M, Yin X, Klapper H, Wierenga K, Elsas L (2008) ARHI: a new target of galactose toxicity in classic galactosemia. Biosci Hypotheses 1(5):263-271
17. Lee PJ, Lilburn M, Wendel U, Schadewaldt P (2003) A woman with untreated galactosaemia. Lancet 362(9382):446
18. McCorvie TJ, Timson DJ (2011) Structural and molecular biology of type I galactosemia: disease-associated mutations. IUBMB Life 63(11):949-954
19. Murphy M, McHugh B, Tighe O, Mayne P, O'Neill C, Naughten E, Croke DT (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. Eur J Hum Genet 7(5):549-554
20. Nelson D (1995) Verbal dyspraxia in children with galactosemia. Eur J Pediatr 154(7 Suppl 2):S6-S7
21. Panis B, Bakker JA, Sels JP, Spaapen LJ, van Loon LJ, Rubio-Gozalbo ME (2006) Untreated classical galactosemia patient with mild phenotype. Mol Genet Metab 89(3):277-279
22. Potter NL (2010) Voice disorders in children with classic galactosemia. J Inherit Metab Dis
23. Rubio-Gozalbo ME, Gubbels CS, Bakker JA, Menheere PP, Wodzig WK, Land JA (2010) Gonadal function in male and female patients with classic galactosemia. Hum Reprod Update 16(2):177-188
24. Schweitzer S, Shin Y, Jakobs C, Brodehl J (1993) Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 152(1):36-43
25. Shield JP, Wadsworth EJ, MacDonald A, Stephenson A, Tyfield L, Holton JB, Marlow N (2000) The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child 83(3):248-250
26. Slepak TI, Tang M, Slepak VZ, Lai K (2007) Involvement of endoplasmic reticulum stress in a novel classic galactosemia model. Mol Genet Metab 92(1-2):78-87
27. Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13(6):802-818
28. Waisbren S, Potter N, Gordon C, Green R, Greenstein P, Gubbels C, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo C-Y, Hecht L, Jackson R, Jansma B, Li Y, Lip V, Miller D, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu B-L, Levy H, Elsas L, Berry G (2012) The adult galactosemic phenotype. J Inherit Metab Dis 35(2):279-286
29. Walter JH, Collins JE, Leonard JV (1999) Recommendations for the management of galactosaemia. UK Galactosaemia Steering Group. Arch Dis Child 80(1):93-96
30. Widger J, O'Toole J, Geoghegan O, O'Keefe M, Manning R (2010) Diet and visually significant cataracts in galactosaemia: is regular follow up necessary? J Inherit Metab Dis 33(2):129-132