Nagamine T, Saito S, Yamada S, Arai T, Takehara K, Fukui T
First Dept. of Internal Medicine, Gunma University School of Medicine, Japan.
Scand J Gastroenterol. 1993 Oct;28(10):899-906. doi: 10.3109/00365529309103132.
To investigate whether biotinidase deficiency may occur in liver disease, we determined biotinidase activity, biotin levels, and organic acids in patients with liver disease. Serum biotinidase activity in patients with liver disease (2.63 +/- 1.40 nmol/min/ml) was significantly lower than in the control group (5.43 +/- 1.06 nmol/min/ml). Serum biotinidase activity in decompensated liver cirrhosis (LC) and hepatoma was significantly lower than in acute viral hepatitis (AVH), chronic viral hepatitis (CVH), and compensated LC. The mean serum level of biotin in decompensated LC (1.8 +/- 0.6 microgram/ml) and hepatoma (1.7 +/- 0.8 microgram/ml) was significantly lower than in the control group (2.5 +/- 1.0 microgram/ml), and urinary excretion of biotin was increased in patients with liver disease, particularly in decompensated LC. Biotinidase activity correlated positively with serum biotin level and correlated negatively with urinary biotin level. Moreover, in four of five patients with severe liver disease the excretion of propionate, lactate, and 3-hydroxybutyrate decreased after biotin supplementation. The data for patients with severe liver disease so resembled those for late-onset multiple carboxylase deficiency that biotinidase deficiency is likely in patients with severe liver disease.
为研究肝脏疾病患者是否可能发生生物素酶缺乏症，我们测定了肝脏疾病患者的生物素酶活性、生物素水平及有机酸。肝脏疾病患者的血清生物素酶活性（2.63±1.40纳摩尔/分钟/毫升）显著低于对照组（5.43±1.06纳摩尔/分钟/毫升）。失代偿期肝硬化（LC）和肝癌患者的血清生物素酶活性显著低于急性病毒性肝炎（AVH）、慢性病毒性肝炎（CVH）和代偿期LC患者。失代偿期LC患者（1.8±0.6微克/毫升）和肝癌患者（1.7±0.8微克/毫升）的血清生物素平均水平显著低于对照组（2.5±1.0微克/毫升），且肝脏疾病患者，尤其是失代偿期LC患者的生物素尿排泄增加。生物素酶活性与血清生物素水平呈正相关，与生物素尿水平呈负相关。此外，五名严重肝脏疾病患者中有四名在补充生物素后，丙酸、乳酸和3-羟基丁酸的排泄减少。严重肝脏疾病患者的数据与迟发性多种羧化酶缺乏症患者的数据非常相似，因此严重肝脏疾病患者可能存在生物素酶缺乏症。
