Wood P A, Amendt B A, Rhead W J, Millington D S, Inoue F, Armstrong D
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Pediatr Res. 1989 Jan;25(1):38-43. doi: 10.1203/00006450-198901000-00010.
A murine model for short-chain acyl-coenzyme A dehydrogenase (SCAD) deficiency has been identified and characterized in BALB/cByJ mice. These mice have undetectable SCAD activity, severe organic aciduria; excreting ethylmalonic and methylsuccinic acids and N-butyrylglycine, and develop a fatty liver upon fasting or dietary fat challenge. The mutant mice develop hypoglycemia after an 18-h fast, and have elevated urinary and muscle butyrylcarnitine concentrations. Most of these findings parallel those of human disorders associated with SCAD deficiency and other beta-oxidation defects. This mouse model presents important opportunities to investigate the biology of mammalian fatty acid metabolism and the related human diseases.
已在BALB/cByJ小鼠中鉴定并表征了一种用于短链酰基辅酶A脱氢酶（SCAD）缺乏症的小鼠模型。这些小鼠的SCAD活性检测不到，患有严重的有机酸尿症，排泄乙基丙二酸、甲基琥珀酸和N-丁酰甘氨酸，并且在禁食或饮食脂肪刺激后会出现脂肪肝。突变小鼠在禁食18小时后会出现低血糖，并且尿和肌肉中的丁酰肉碱浓度升高。这些发现大多与人类SCAD缺乏症和其他β-氧化缺陷相关疾病的发现相似。该小鼠模型为研究哺乳动物脂肪酸代谢生物学及相关人类疾病提供了重要机会。
