Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 1049-1061

  Ryan, Emily L ^a   Lynch, Mary Ellen ^b   Taddeo, Elles ^b   Gleason, Tyler J ^b   Epstein, Michael P ^b   Fridovich Keil, Judith L ^b  

^a EMORY UNIVERSITY   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ACADEMIC ACHIEVEMENT; ADAPTIVE BEHAVIOR; ADOLESCENT; ADULT; ARTICLE; CHILD; CLASSIC GALACTOSEMIA; COHORT ANALYSIS; ENZYME ACTIVITY; FEMALE; GALACTOSEMIA; GENOTYPE; HEALTH SURVEY; HUMAN; MAJOR CLINICAL STUDY; MALE; OUTCOME ASSESSMENT; PARENT; PRESCHOOL CHILD; SCHOOL; SCHOOL CHILD; SCORING SYSTEM; SOCIAL ADAPTATION; SPEECH DISORDER; TEACHER;

ADOLESCENT; CHILD; CHILD BEHAVIOR; CHILD, PRESCHOOL; COGNITION; FEMALE; GALACTOSEMIAS; HUMANS; LANGUAGE DEVELOPMENT; LEARNING; MALE; PROGNOSIS; SCHOOLS; SPEECH; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 84888204490     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9575-x     Document Type: Article

References (49)

1. Achenbach TM (1966) The classification of children's psychiatric symptoms: a factor-analytic study. Psychol Monogr 80(7):1-37
2. Achenbach TM, Dumenci L (2001) Advances in empirically based assessment: revised cross-informant syndromes and new DSM-oriented scales for the CBCL, YSR, and TRF: comment on Lengua, Sadowksi, Friedrich, and Fischer (2001). J Consult Clin Psychol 69(4):699-702
3. Achenbach T, Rescorla L (2000) Manual for the ASEBA preschool forms & profiles. Burlington, VT: University of Vermont, Research Center for Children, Youth, & Families
4. Achenbach T, Rescorla L (2001) Manual for the ASEBA school-age forms & profiles. Burlington, VT: University of Vermont, Research Center for Children, Youth, & Families
5. Achenbach TM, Ruffle TM (2000) The child behavior checklist and related forms for assessing behavioral/emotional problems and competencies. Pediatr Rev 21(8):265-271
6. Achenbach TM, Verhulst FC, Baron GD, Althaus M (1987) A comparison of syndromes derived from the child behavior checklist for American and Dutch boys aged 6-11 and 12-16. J Child Psychol Psychiatry 28(3):437-453
7. 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(4):658-664
8. Bosch AM (2006) Classical galactosaemia revisited. J Inherit Metab Dis 29(4):516-525
9. Chhay J, Openo K, Eaton J, Gentile M, Fridovich-Keil J (2008) A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family. J Inherit Metab Dis 31:97-107
10. Christacos N, Fridovich-Keil J (2002) Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase. Mol Genet Metab 76(4):319-326
11. Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, Crushell E, Knerr I, Monavari AA, Treacy EP (2012) Classical galactosaemia in Ireland: incidence, complications and outcomes of treatment. J Inherit Metab Dis doi: 10.1007/s10545-012-9507-9
12. Crushell E, Chukwu J, Mayne P, Blatny J, Treacy E (2009) Negative screening tests in classical galactosaemia caused by S135L homozygosity. J Inherit Metab Dis 32(3):412-415
13. Doyle C, Channon S, Orlowska D, Lee P (2010) The neuropsychological profile of galactosaemia. J Inherit Metab Dis 33(5):603-609
14. Dubroff JG, Ficicioglu C, Segal S, Wintering NA, Alavi A, Newberg AB (2008) FDG-PET findings in patients with galactosaemia. J Inherit Metab Dis 31(4):533-539
15. Elsevier JP, Fridovich-Keil JL (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative. J Biol Chem 271:32002-32007
16. Elsevier JP, Wells L, Quimby BB, Fridovich-Keil JL (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci USA 93:7166-7171
17. Fridovich-Keil JL, Jinks-Robertson S (1993) A yeast expression system for human galactose-1-phosphate uridylyltransferase. Proc Natl Acad Sci USA 90:398-402
18. Fridovich-Keil JL, Walter JH (2008) Galactosemia. In: Valle D, Beaudet A, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A (eds) The online metabolic & molecular bases of inherited disease. McGraw-Hill, New York http://www.ommbid.com/
19. Gitzelmann R, Steinmann B (1984) Galactosemia: how does long-term treatment change the outcome? Enzyme 32(1):37-46
20. Gresham FM, Elliott SN (2008) SSIS (Social Skills Improvement System) rating scales. NCS Pearson Inc, Minneapolis
21. Gresham FM, Elliott SN, Cook CR, Vance MJ, Kettler R (2010a) Cross-informant agreement for ratings for social skill and problem behavior ratings: an investigation of the Social Skills Improvement System-Rating Scales. Psychol Assess 22(1):157-166
22. Gresham FM, Elliott SN, Kettler RJ (2010b) Base rates of social skills acquisition/performance deficits, strengths, and problem behaviors: an analysis of the Social Skills Improvement System-Rating Scales. Psychol Assess 22(4):809-815
23. Henderson H, Leisegang F, Brown R, Eley B (2002) The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. BMC Pediatr 2:7
24. Hoffmann B, Wendel U, Schweitzer-Krantz S (2011) Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. J Inherit Metab Dis 34(2):421-427
25. Hughes J, Ryan S, Lambert D et al (2009) Outcomes of siblings with classical galactosemia. J Pediatr 154(5):721-726
26. Jumbo-Lucioni P, Garber K, Kiel J, et al (2012) Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis doi: 10.1007/s10545-012-9477-y
27. Kaufman FR, Reichardt JK, Ng WG et al (1994) Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. J Pediatr 125(2):225-227
28. Kaufman FR, McBride-Chang C, Manis FR, Wolff JA, Nelson MD (1995) Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Eur J Pediatr 154(7 Suppl 2):S2-S5
29. Kushner RF, Ryan EL, Sefton JM et al (2010) A Drosophila melanogaster model of classic galactosemia. Dis Model Mech 3(9-10):618-627
30. Lai K, Elsas LJ (2001) Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia. Mol Genet Metab 74:264-272
31. Lambert C, Boneh A (2004) The impact of galactosaemia on quality of life-a pilot study. J Inherit Metab Dis 27(5):601-608
32. Landt M, Ritter D, Lai K, Benke PJ, Elsas LJ, Steiner RD (1997) Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes. J Pediatr 130(6):972-980
33. Nelson CD, Waggoner DD, Donnell GN, Tuerck JM, Buist NR (1991) Verbal dyspraxia in treated galactosemia. Pediatrics 88(2):346-350
34. Nelson MD Jr, Wolff JA, Cross CA, Donnell GN, Kaufman FR (1992) Galactosemia: evaluation with MR imaging. Radiology 184(1):255-261
35. Potter N (2011) Voice disorders in children with classic galactosemia. J Inherit Metab Dis 34(2):377-385
36. Potter N, Lazarus J, Johnson J, Steiner R, Shriberg L (2008) Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis 31(4):524-532
37. Reichardt JKV, Levy HL, Woo SL (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase. Biochemistry 31:5430-5433
38. Riehman K, Crews C, Fridovich-Keil JL (2001) Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. J Biol Chem 276(14):10634-10640
39. Ryan E, Duboff B, Feany M, Fridovich-Keil J (2012) Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia. Dis Model Mech doi: 10.1242/dmm.009050
40. Schadewaldt P, Hoffmann B, Hammen H, Kamp G, Schweitzer-Krantz S, Wendel U (2010) Longitudinal assessment of intellectual achievement in patients with classical galactosemia. Pediatrics 125(2):e374-e381
41. Schweitzer S, Shin Y, Jakobs C, Brodehl J (1993) Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 152(1):36-43
42. Shield JP, Wadsworth EJ, MacDonald A et al (2000) The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child 83:248-250
43. Shriberg L, Potter N, Strand E (2011) Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. J Speech Lang Hear Res 54(2):487-519
44. Tyfield LA (2000) Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype. Eur J Pediatr 159(Suppl 3):S204-S207
45. Verhulst FC, Achenbach TM, Althaus M, Akkerhuis GW (1988) A comparison of syndromes derived from the child behavior checklist for American and Dutch girls aged 6-11 and 12-16. J Child Psychol Psychiatry 29(6):879-895
46. Vuontela V, Carlson S, Troberg AM, Fontell T, Simola P, Saarinen S, Aronen ET (2012) Working memory, attention, inhibition, and their relation to adaptive functioning and behavioral/emotional symptoms in school-aged children. Child Psychiatry Hum Dev doi: 10.1007/s10578-012-0313-2
47. 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
48. Waisbren S, Potter N, Gordon C et al (2012) The adult galactosemic phenotype. J Inherit Metab Dis 35(2):279-286
49. Wells L, Fridovich-Keil JL (1997) Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosemia. J Inherit Metab Dis 20(5):633-642