Molecular basis of disorders of human galactose metabolism: Past, present, and future

被引：66

作者：

Novelli, G

Reichardt, JKV

机构：

[1] Univ So Calif, Keck Sch Med, Dept Biochem & Mol Biol, Los Angeles, CA 90089 USA

[2] Univ So Calif, Keck Sch Med, Inst Med Genet, Los Angeles, CA 90089 USA

[3] Univ Roma Tor Vergata, Dipartimento Biopatol & Diagnost Immagini, I-00133 Rome, Italy

来源：

MOLECULAR GENETICS AND METABOLISM | 2000年 / 71卷 / 1-2期

关键词：

mutation analysis; structure/function correlations; genotype/phenotype correlations; Mendelian disorder; heterozygote advantage; galactosemia;

D O I：

10.1006/mgme.2000.3073

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Molecular cloning and characterization of all three human galactose-metabolic genes have led to the identification of a number of mutations which result in three forms of galactosemia which are caused by kinase (GALK), transferase (GALT), or epimerase (GALE) deficiency. We review here recent developments in the molecular characterization of all three disorders of human galactose metabolism. Recent progress in the biochemical and/or structural analyses of the GALT and GALE proteins has complemented human mutational studies. Interestingly, genotype/phenotype correlations have been modest as in some other Mendelian disorders. We discuss possible reasons for this apparent paradox. Finally, we note the panethnic nature of galactosemia and suggest a hypothesis for it. (C) 2000 Academic Press.

引用

页码：62 / 65

页数：4

共 18 条

[11]

REICHARDT JKV, 1988, MOL BIOL MED, V5, P107

[12]

Segal S., 1995, METABOLIC MOL BASIS, P967

[13] CLONING OF THE GALACTOKINASE CDNA AND IDENTIFICATION OF MUTATIONS IN 2 FAMILIES WITH CATARACTS [J].