Division of Medical Genetics, Children's Hospital Los Angeles, CA 90027, USA.
Mol Genet Metab. 2011 Feb;102(2):149-52. doi: 10.1016/j.ymgme.2010.10.014. Epub 2010 Oct 30.
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.
线粒体 DNA（mtDNA）耗竭综合征是一种常染色体隐性疾病，其受累组织中的 mtDNA 拷贝数大大减少。这些综合征的脑肌病组包括 SUCLA2 和 SUCLG1 亚基的突变[1]。在本报告中，我们描述了一例与 SUCLG1 基因突变和 mtDNA 耗竭相关的致命性婴儿乳酸酸中毒患者。骨骼肌的组织学和酶学异常支持该线粒体疾病的诊断。该病例的独特之处在于产前影像学提示了该诊断，并且在 2 周龄时就建立了明确的分子诊断。我们描述了产前 MRI 和新生儿实验室异常，这些异常可以提示临床医生在治疗婴儿乳酸酸中毒时考虑该诊断。
