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 in red cells

Journal of Inherited Metabolic Disease

Volumn 21, Issue 3, 1998, Pages 232-235

  Shin, Y S ^a   Koch, H G ^b   Kohler M ^c   Hoffmann, G ^c   Patsoura, A ^a   Podskarbi, T ^d  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c University Children's Hospital   (Germany)

^d Medizinisch Immunologische Laboratorien   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONFERENCE PAPER; DIAGNOSTIC ACCURACY; DIET THERAPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; FOLLOW UP; GALACTOSEMIA; GENE MUTATION; GENETIC COUNSELING; GERMANY; HUMAN; MEDICAL DECISION MAKING;

ERYTHROCYTES; GALACTOSEMIAS; GERMANY; HUMANS; MUTATION; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; VARIATION (GENETICS);

EID: 0031926210     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005303818858     Document Type: Conference Paper

References (7)

1. Greber-Platzer S, Guldberg P, Scheibenreiter S, et al (1997) Molecular heterogeneity of classical and Duarte galactosaemia: mutation analysis by denaturing gradient gel electrophoresis. Hum Mutat 10: 49-57.
2. Hirokawa H, Okano Y, Ashino J, Imamura T, Suyama I, Isshiki G (1997) Molecular characterization of galactosaemia mutations (type I) in Japanese. Proc 7th Int Congr Inborn Error Metab, Vienna, 201 (Abstract).
3. Kozak L, Francova H, Blazkova M, et al (1997) Mutation analysis of GALT gene in Czech and Slovak galactosaemia patients. Proc 7th Int Congr Inborn Error Metab, Vienna, 96 (Abstract).
4. Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ (1997) Molecular basis for Duarte and Los Angeles variant galactosaemia. Am J Hum Genet 60: 366-372.
5. Podskarbi T, Shin YS (1996) Neonatal screening and differential diagnosis of galactosaemia. In Levy H, Hermos, RJ, Grady GF, eds. Proc 3rd Int Congr Neonat Screen, Boston, 317-318.
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. Shin YS, Niedermeier HP, Endres J et al (1987) Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase: developmental aspect of UDP-galactose pyrophosphorylase. Clin Chim Acta 166: 27-35.