Shin Y S
Kinderklinik, Ludwig-Maximilians-Universität München.
Clin Investig. 1993 Feb;71(2):115-8. doi: 10.1007/BF00179991.
In the past 5 years we have discovered 8 boys and 3 girls who suffer from fructose-1,6-bisphosphatase deficiency. Although they all showed the typical symptoms of the deficiency such as frequent vomiting, hypoglycemia, lactic acidosis, and hepatomegaly, the age at diagnosis varied from 2 months to 4 years. All the boys revealed the deficient enzyme activity in leukocytes but none of the girls. The liver biopsy was investigated in six patients to confirm the diagnosis. These results suggest the existence of tissue-specific isoenzymes for fructose-1,6-bisphosphatase possibly with a different gene origin.
在过去5年里，我们发现了8名患有果糖-1,6-二磷酸酶缺乏症的男孩和3名患有该疾病的女孩。尽管他们都表现出了该缺乏症的典型症状，如频繁呕吐、低血糖、乳酸酸中毒和肝肿大，但诊断时的年龄从2个月到4岁不等。所有男孩的白细胞中都显示出酶活性缺乏，但女孩中没有一个是这样。对6名患者进行了肝活检以确诊。这些结果表明，果糖-1,6-二磷酸酶可能存在组织特异性同工酶，其基因起源可能不同。
