A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene

被引：19
作者：
Dey, R
Mine, M
Desguerre, I
Slama, A
Van Den Berghe, L
Brivet, M
Aral, B
Marsac, C
机构：
[1] Fac Med Necker Enfants Malad, Lab CERTO, CNRS UPR 1524, F-75015 Paris, France
[2] Hop Bicetre, AP, HP, Biochim Lab, Le Kremlin Bicetre, France
[3] Hop Necker Enfants Malad, Dept Neuropediat, Paris, France
来源：
ANNALS OF NEUROLOGY | 2003年 / 53卷 / 02期
关键词：
D O I：
10.1002/ana.10478
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report a case of neonatal congenital lactic acidosis associated with pyruvate dehydrogenase E3-binding protein deficiency in a newborn girl. She had a severe encephalopathy, and magnetic resonance imaging of the brain showed large subependymal cysts and no basal ganglia lesions. She died 35 days after birth. We detected a novel homozygous deletion (620delC) in the PDX1 gene, which encodes for the E3BP subunit of the pyruvate dehydrogenase complex.
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页码：273 / 277
页数：5
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