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Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

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Fatal infantile lactic acidosis is a severe metabolic disorder characterized by the onset of lactic acidosis within the 1st d of life and early death. We found a combined respiratory-chain enzyme deficiency associated with mitochondrial DNA (mtDNA) depletion in a small consanguineous family with this disorder. To identify the disease-causing gene, we performed single-nucleotide polymorphism homozygosity mapping and found homozygous regions on four chromosomes. DNA sequencing revealed a homozygous 2-bp deletion in SUCLG1, a gene that encodes the alpha subunit of the Krebs-cycle enzyme succinate-coenzyme A ligase (SUCL). The mtDNA depletion is likely explained by decreased mitochondrial nucleoside diphosphate kinase (NDPK) activity resulting from the inability of NDPK to form a complex with SUCL.

Original languageEnglish
JournalAmerican Journal of Human Genetics
Volume81
Issue number2
Pages (from-to)383-7
Number of pages5
ISSN0002-9297
DOIs
Publication statusPublished - Aug 2007

    Research areas

  • Acidosis, Lactic/genetics, DNA, Mitochondrial, Fatal Outcome, Female, Gene Dosage, Humans, Infant, Newborn, Male, Mitochondrial Diseases/genetics, Pedigree, Protein Subunits, Succinate-CoA Ligases/genetics

ID: 58995969