Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1999593 | Molecular Genetics and Metabolism | 2010 | 6 Pages |
Abstract
In this paper, we describe the historical aspects of citrin and citrin deficiency, characteristic food preference and food aversion of citrin-deficient subjects, and carbohydrate toxicity in relation to ureogenesis and issues of the conventional treatment procedures for hyperammonemia in citrin deficiency, leading to current treatment concepts for citrin deficiency. We also emphasize the importance of a citrin deficiency mouse model in elucidating the pathophysiology and developing novel therapeutics based on the pathophysiology, such as sodium pyruvate.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Takeyori Saheki, Kanako Inoue, Anmi Tushima, Kozo Mutoh, Keiko Kobayashi,