## Abstract Type I galactosemia results from reduced galactose 1βphosphate uridylyltransferase (GALT) activity. Signs of disease include damage to the eyes, brain, liver, and ovaries. However, the exact nature and severity of the pathology depends on the mutation(s) in the patient's genes and his/h
The structural and molecular biology of type III galactosemia
β Scribed by David J. Timson
- Book ID
- 111741760
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 426 KB
- Volume
- 58
- Category
- Article
- ISSN
- 1521-6543
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Reduced galactose 1-phosphate uridylyltransferase (GALT) activity is associated with the genetic disease type I galactosemia. This results in an increase in the cellular concentration of galactose 1-phosphate. The accumulation of this toxic metabolite, combined with aberrant glycoprotein and glycoli
Cummunicated by Sauio L. C. Woo We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with GALT deficiency and identified N 3 14D and R333W mutations, previously found in Caucasians. One novel missense mutation was an G-to-A transit