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Molecular basis of disorders of human galactose metabolism: past, present, and future.
Mol Genet Metab. 2000 Sep-Oct; 71(1-2):62-5.MG

Abstract

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.

Authors+Show Affiliations

Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata, Rome, 00133, Italy.No affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

11001796

Citation

Novelli, G, and J K. Reichardt. "Molecular Basis of Disorders of Human Galactose Metabolism: Past, Present, and Future." Molecular Genetics and Metabolism, vol. 71, no. 1-2, 2000, pp. 62-5.
Novelli G, Reichardt JK. Molecular basis of disorders of human galactose metabolism: past, present, and future. Mol Genet Metab. 2000;71(1-2):62-5.
Novelli, G., & Reichardt, J. K. (2000). Molecular basis of disorders of human galactose metabolism: past, present, and future. Molecular Genetics and Metabolism, 71(1-2), 62-5.
Novelli G, Reichardt JK. Molecular Basis of Disorders of Human Galactose Metabolism: Past, Present, and Future. Mol Genet Metab. 2000 Sep-Oct;71(1-2):62-5. PubMed PMID: 11001796.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular basis of disorders of human galactose metabolism: past, present, and future. AU - Novelli,G, AU - Reichardt,J K, PY - 2000/9/26/pubmed PY - 2001/2/28/medline PY - 2000/9/26/entrez SP - 62 EP - 5 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 71 IS - 1-2 N2 - 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. SN - 1096-7192 UR - https://www.unboundmedicine.com/medline/citation/11001796/Molecular_basis_of_disorders_of_human_galactose_metabolism:_past_present_and_future_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(00)93073-7 DB - PRIME DP - Unbound Medicine ER -