Haut et al. (2003) reported a Turkish girl, born of consanguineous parents, with complex III deficiency. She developed normally until 8 months of age when she presented with an episode of acute gastroenteritis. Laboratory investigations showed hypoglycemia, metabolic ... Haut et al. (2003) reported a Turkish girl, born of consanguineous parents, with complex III deficiency. She developed normally until 8 months of age when she presented with an episode of acute gastroenteritis. Laboratory investigations showed hypoglycemia, metabolic acidosis, and, during metabolic crisis, hyperlactatemia. At the age of 4 years her growth was normal and there were no signs of psychomotor retardation or neurologic impairment. Liver enlargement at initial presentation disappeared progressively, and liver size was normal by 19 months of age. There had been 2 further episodes of hypoglycemia with metabolic acidosis at 2.5 years of age.
In a Turkish girl with complex III deficiency, Haut et al. (2003) identified a homozygous mutation in the UQCRB gene (191330.0001). Each unaffected parent was heterozygous for the mutation.