摘要：Abstract Defects in two subunits of succinate-CoA ligase encoded by the genes {SUCLG1} and {SUCLA2} have been identified in mitochondrial {DNA} (mtDNA) depletion syndromes. Patients generally present with encephalomyopathy and mild methylmalonic acidemia (MMA), however mutations in {SUCLG1} normally appear to result in a more severe clinical phenotype. In this report, we describe a patient with fatal infantile lactic acidosis and multiple congenital anomalies (MCAs) including renal and cardiac defects. Molecular studies showed a defective electron transport chain (ETC), mtDNA depletion, and a novel homozygous mutation in the {SUCLG1} gene. Although our patient's clinical biochemical phenotype is consistent with a {SUCLG1} mutation, it is unclear whether the {MCAs} observed in our patient are a result of the {SUCLG1} mutation or alterations in a second gene. An increasing number of reports have described {MCAs} associated with mitochondrial disorders and {SUCLG1} specifically. Additional studies such as whole exome sequencing will further define whether additional genes are responsible for the observed MCAs.
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