Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase

Journal of Inherited Metabolic Disease

Volumn 22, Issue 3, 1999, Pages 327-329

  Shin, Y S ^a   Zschocke, J ^b   Das, A M ^c   Podskarbi, T ^d  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b University Children's Hospital   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d Molecular Genetics and Metabolism Laboratory   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ADOLESCENT; ADULT; AGE; CHILD; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; GALACTOSEMIA; GENE FREQUENCY; GENE MUTATION; GERMANY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; NEWBORN;

ALLELES; GALACTOSEMIAS; GENE FREQUENCY; HUMANS; MUTAGENESIS; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; VARIATION (GENETICS);

EID: 0033043443     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005516523196     Document Type: Conference Paper

References (14)

1. Böhles H, Wenzel D, Shin YS (1986) Progressive cerebellar and extrapyramidal motor disturbances in galactosemic twin. Eur J Pediatr 145: 413-417.
2. Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ (1997) Molecular basis for Duarte and Los Angeles variant galactosemia. Am J Hum Genet 60: 366-372.
3. Ng WG, Xu YK, Kaufmann FR (1994) Biochemical and molecular studies of 132 patients with galactosemia. Hum Genet 94: 359-363.
4. Podskarbi T, Shin YS (1996) Neonatal screening and differential diagnosis of galactosemia. In Levy H, Hermos RJ, Grady GF, eds. Proceedings of the 3rd International Congress on Neonatal Screening, Boston, 317-318.
5. Podskarbi T, Reichardt JKV, Shin YS (1994) Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany. J Inher Metab Dis 17: 149-150.
6. Podskarbi T, Kohlmetz T, Gathof BS, Kleinlein B, Shin YS (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase. J Inher Metab Dis 19: 638-644.
7. Schuster V, Podskarbi T, Gresser U, Ottenmeyer H, Haubner M, Shin YS (1998) Clinical, biochemical and molecular studies of a Turkish family with three siblings with classic galactosemia: Simultaneous occurrence of various mutations and polymorphisms in the GALT gene. J Mol Med 76: 715-719.
8. Schweitzer S, Shin YS, Jacobs C, et al (1993) Long-term outcome in 134 patients with galactosemia. Eur J Pediatr 152: 36-43.
9. Segal S (1989) Disorders of galactose metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 453-480.
10. Shin YS, Niedermeier HP, Endres W (1987) Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galacto se-1-phosphate uridyltransferase: developmental aspect of UDP-galactose pyrophosphorylase. Clin Chim Acta 166: 27-35.
11. Shin YS, Gathof BS, Podskarbi T et al (1996) Three mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosemia. Eur J Pediatr 155: 393-397.
12. Shin YS, Koch HG, Köhler M, Hoffmann G, Patsoura A, Podskarbi T (1998) Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal red cells. J Inher Metab Dis 21: 232-235.
13. Steen C, Podskarbi T, Shin YS, Kohlschütter A (1997) A novel mutation in the GALT gene in siblings with a mild variant form of galactosemia. Proceedings of the 7th International Congress on Inborn Errors of Metabolism, Vienna; 96 (Abstract).
14. 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.