两名丙酮酸脱氢酶缺乏症患者的临床表现及长期生存情况
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
作者信息
Yoshida Takanobu, Kido Jun, Mitsubuchi Hiroshi, Matsumoto Shirou, Endo Fumio, Nakamura Kimitoshi
机构信息
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
出版信息
Hum Genome Var. 2017 Jun 1;4:17020. doi: 10.1038/hgv.2017.20. eCollection 2017.
Abstract
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in , presented with lactic acidosis with neurological disorder. These patients were able to survive for a long period under careful nursing care. Herein, we discuss the factors contributing to their relatively stable clinical course, albeit with intellectual disability.
摘要
丙酮酸脱氢酶E1-α缺乏症（PDHAD）会导致乳酸性酸中毒和高丙酮酸血症。两名患有PDHAD的患者，一名男性有p.R263Q突变，一名女孩有p.C145del突变，均表现为伴有神经功能障碍的乳酸性酸中毒。这些患者在精心护理下得以长期存活。在此，我们讨论促成其相对稳定临床病程的因素，尽管存在智力残疾。
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2
Keep the fire burning: Current avenues in the quest of treating mitochondrial disorders.
Mitochondrion. 2015 Sep;24:32-49. doi: 10.1016/j.mito.2015.06.002. Epub 2015 Jun 30.
3
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.
4
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.
5
A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging.
J Clin Ultrasound. 2012 May;40(4):234-8. doi: 10.1002/jcu.20864. Epub 2011 Aug 2.
6
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Dev Med Child Neurol. 2010 Feb;52(2):e1-9. doi: 10.1111/j.1469-8749.2009.03541.x. Epub 2009 Dec 1.
7
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1101-4. Epub 2009 Jul 29.
8
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
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9
Metabolic compartmentalization in the human cortex and hippocampus: evidence for a cell- and region-specific localization of lactate dehydrogenase 5 and pyruvate dehydrogenase.
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10
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.
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