title: Cytochrome oxidase deficiency in Lowe syndrome.
abstract: We report on a patient with complex IV deficiency who in later clinical course was diagnosed as a Lowe syndrome. Mitochondrial abnormalities can be present in Lowe syndrome and might lead to misdiagnosis, additionally because clinical features can be overlapping.
authors.affiliation: Metabolic Unit, Great Ormond Street Hospital for Children, London, UK.
authors.forename: P M
authors.initials: PM
authors.lastname: Cifelli
authors.forename: I
authors.initials: I
authors.lastname: Hargreaves
authors.forename: S
authors.initials: S
authors.lastname: Grünewald
mesh_terms: D030401:Cytochrome-c Oxidase Deficiency / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000201:enzymology*