Fellman Vineta
Lundin Yliopisto, Lastentautien Osasto.
Duodecim. 2012;128(15):1560-7.
GRACILE syndrome belongs to the Finnish disease heritage, and is caused by a point mutation in the BCS1L-gene encoding a mitochondrial protein. This leads to dysfunction of the complex III in the respiratory chain. Significant fetal growth disturbance is the primary manifestation. Within the first day the newborn infant develops severe lactic acidosis. Hypoglycemia, elevated serum ferritin and conjugated bilirubin values and aminoaciduria imply mitochondrial liver disease and renal tubulopathy. In Finland, the diagnosis is based on the 232A>G mutation in the BCS1L-gene. No specific treatment is available. GRACILE syndrome leads to early death.
GRACILE综合征属于芬兰疾病谱，由编码线粒体蛋白的BCS1L基因中的一个点突变引起。这导致呼吸链中复合体III功能障碍。显著的胎儿生长发育障碍是主要表现。新生儿在出生第一天内就会出现严重的乳酸酸中毒。低血糖、血清铁蛋白升高、结合胆红素值升高以及氨基酸尿提示线粒体肝病和肾小管病。在芬兰，诊断基于BCS1L基因中的232A>G突变。目前尚无特效治疗方法。GRACILE综合征会导致早期死亡。
