Citrin deficiency and current treatment concepts.
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.
Institute for Health Sciences, Tokushima Bunri University, Tokushima 770-8514, Japan. takesah@tokushima.bunri-u.ac.jp
Takeyori
T
Saheki
Kanako
K
Inoue
Anmi
A
Tushima
Kozo
K
Mutoh
Keiko
K
Kobayashi
D000818:Animals; D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000378:metabolism; D002241:Carbohydrates / Q000633:toxicity; D003677:Deficiency Diseases / Q000150:complications / Q000628:therapy*; D004195:Disease Models, Animal; D005518:Food Preferences / Q000187:drug effects; D006801:Humans; D022124:Hyperammonemia / Q000150:complications / Q000628:therapy; D051379:Mice; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000378:metabolism; D014508:Urea / Q000378:metabolism
D002135:Calcium-Binding Proteins; D002241:Carbohydrates; D027361:Organic Anion Transporters; C008822:citrin; D014508:Urea