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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.
Originalsprog | Engelsk |
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Tidsskrift | American Journal of Human Genetics |
Vol/bind | 81 |
Udgave nummer | 2 |
Sider (fra-til) | 383-7 |
Antal sider | 5 |
ISSN | 0002-9297 |
DOI | |
Status | Udgivet - aug. 2007 |
ID: 58995969