| First Author | Saheki T | Year | 2010 |
| Journal | Mol Genet Metab | Volume | 100 Suppl 1 |
| Pages | S59-64 | PubMed ID | 20233664 |
| Mgi Jnum | J:159226 | Mgi Id | MGI:4442104 |
| Doi | 10.1016/j.ymgme.2010.02.014 | Citation | Saheki T, et al. (2010) Citrin deficiency and current treatment concepts. Mol Genet Metab 100 Suppl 1:S59-64 |
| abstractText | 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. |
