乳酸性酸中毒
线粒体DNA
点突变
突变
产前诊断
粒线体疾病
生物
遗传性疾病
基因
医学
遗传学
病理
内分泌学
胎儿
怀孕
作者
Linda M. Randolph,Hollie A. Jackson,Jing Wang,Hiroyuki Shimada,Pedro A. Sanchez‐Lara,Derek A. Wong,Lee‐Jun C. Wong,Richard G. Boles
标识
DOI:10.1016/j.ymgme.2010.10.014
摘要
Mitochondrial DNA (mtDNA) depletion syndromes are autosomal recessive conditions in which the mtDNA copy number is greatly decreased in affected tissues. The encephalomyopathic group of these syndromes comprise mutations in SUCLA2 and SUCLG1 subunits [1]. In this report, we describe a patient with fatal infantile lactic acidosis associated with mutations in the SUCLG1 gene and mtDNA depletion. Histological and enzymatic abnormalities in skeletal muscle support the diagnosis of this recently described mitochondrial disorder. This case is unique in that prenatal imaging suggested the diagnosis and that the confirmatory molecular diagnosis was established at 2 weeks of age. We describe prenatal MRI and neonatal laboratory disturbances that can point the clinician toward consideration of this diagnosis when treating infantile lactic acidosis.
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