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

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.

journal_name

J Cell Physiol

authors

Fridovich-Keil JL

doi

10.1002/jcp.20820

subject

Has Abstract

pub_date

2006-12-01 00:00:00

pages

701-5

issue

3

eissn

0021-9541

issn

1097-4652

journal_volume

209

pub_type

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