Grip Strength in GALT Deficiency Pubblico
Druss, Jared (Spring 2023)
Abstract
Classic galactosemia (CG) is a rare autosomal recessive metabolic disorder resulting from deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT), the second enzyme in the Leloir pathway of galactose metabolism. Despite early detection by newborn screening and lifelong dietary restriction of galactose, this deficiency results in potentially numerous complications, including cataracts, cognitive challenges, a growth delay, and a grip strength deficit, among others. Here we provide further evidence of a grip strength deficit, both in patients with CG and a GALT-null rat model of CG. Additionally, we demonstrate that, rather than representing an independent phenotype, the grip strength deficit that galactosemia patients and GALT-null rats experience can be accounted for by the growth delay observed in both cohorts.
Table of Contents
Table of Contents
Chapter 1: Introduction…………………………………………………………………………………………………...1
Chapter 2: Grip Strength in Patients with Classic Galactosemia………………………………………6
Chapter 3: Results from Dr. Nancy Potter’s 2013 Study………………………………………………...20
Chapter 4: Growth Delay in GALT-null Rats………………………………………………………………….33
Chapter 5: Grip Strength in GALT-null Rats ………………………………………………………………….39
Chapter 6: Discussion, Limitations and Future Directions……………………………………………....54
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Grip Strength in GALT Deficiency () | 2023-04-08 14:59:19 -0400 |
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