Barth syndrome presenting with acute metabolic decompensation in the neonatal period
Barth syndrome presenting with acute metabolic decompensation in the neonatal period
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DOI：
10.1007/s10545-006-0388-7
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发表时间：
2006-10-01
影响因子：
4.2
通讯作者：
Zammarchi, Enrico
中科院分区：
文献类型：
--
作者：
Donati, Maria Alice;Malvagia, Sabrina;Zammarchi, Enrico
我们描述了两名受巴斯综合征影响的患者。他们的症状分别在出生后的第三天和第一天出现。临床表现包括吸吮不良、嗜睡、肌张力低下、体温过低和心肌病。低血糖、代谢性酸中毒、转氨酶升高、高乳酸血症和轻度高氨血症等实验室检查结果表明存在先天性能量代谢缺陷，可能涉及线粒体。 TAZ (G4.5) 基因的分子分析显示，c.877G > A 突变导致患者 1 中的 G197R 氨基酸取代，而新的剪接供体 c.829 + 1G > A 突变导致患者 2 中的基因损伤。
We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transaminases, hyperlactacidaemia and mild hyperammonaemia pointed to an inborn error of energy metabolism with possible mitochondrial involvement. Molecular analysis of the TAZ (G4.5) gene showed the c.877G > A mutation leading to the G197R amino acid substitution in patient 1, and the new splice donor c.829 + 1G > A genetic lesion in patient 2.