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Late-onset form of partial N-acetylglutamate synthetase deficiency

✍ Scribed by O. N. Elpeleg; J. P. Colombo; N. Amir; C. Bachmann; H. Hurvitz

Book ID
105442127
Publisher
Springer
Year
1990
Tongue
English
Weight
307 KB
Volume
149
Category
Article
ISSN
0340-6997

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N-acetylglutamate (NAG) is a unique cofactor that is essential for the conversion of ammonia to urea in the liver. N-acetylglutamate synthase (NAGS) catalyzes the formation of NAG. Deficiency of NAGS causes a block in ureagenesis resulting in hyperammonemia. Although a number of mutations have been