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J Cell Physiol. 2006 Dec;209(3):701-5.

Galactosemia: the good, the bad, and the unknown.

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1
Department of Human Genetics. Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA. jfridov@emory.edu

Abstract

Alpha-D-galactose is metabolized in species ranging from E. coli to mammals predominantly via a series of sequential reactions collectively known as the Leloir pathway. Deficiency of any one of these enzymes in humans results in a form of the inherited metabolic disorder, galactosemia, although the symptoms and severity depend upon the enzyme impaired, and the degree of functional deficiency (Tyfield and Walter, 2002, The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill.). Studies of these enzymes, and the disorders associated with their loss, have led to a much deeper appreciation of the intricate and interwoven levels of regulation that govern their normal function. These insights have further identified likely mediators of outcome severity in patients, and have enabled a rational approach to the development of novel strategies of intervention.

PMID:
17001680
DOI:
10.1002/jcp.20820
[Indexed for MEDLINE]
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