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Here, we describe two affected cousins, presenting with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy. Genetic investigations in both cases identified a homozygous deletion of exons 2 and 3 of\n                    <jats:italic>UQCRH<\/jats:italic>\n                    , which encodes a structural complex III (CIII) subunit. We generated a mouse model with the equivalent homozygous\n                    <jats:italic>Uqcrh<\/jats:italic>\n                    deletion (\n                    <jats:italic>Uqcrh<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    ), which also presented with lactic acidosis and hyperammonaemia, but had a more severe, non\u2010episodic phenotype, resulting in failure to thrive and early death. The biochemical phenotypes observed in patient and\n                    <jats:italic>Uqcrh<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mouse tissues were remarkably similar, displaying impaired CIII activity, decreased molecular weight of fully assembled holoenzyme and an increase of an unexpected large supercomplex (S\n                    <jats:sub>XL<\/jats:sub>\n                    ), comprising mostly of one complex I (CI) dimer and one CIII dimer. This phenotypic similarity along with lentiviral rescue experiments in patient fibroblasts verifies the pathogenicity of the shared genetic defect, demonstrating that the\n                    <jats:italic>Uqcrh<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mouse is a valuable model for future studies of human CIII deficiency.\n                  <\/jats:p>","DOI":"10.15252\/emmm.202114397","type":"journal-article","created":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T02:38:46Z","timestamp":1636425526000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Characterising a homozygous two\u2010exon deletion in UQCRH: comparing human and mouse 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