Cytochrome oxidase deficiency in Lowe syndrome.
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.
Cifelli
P M
PM
Metabolic Unit, Great Ormond Street Hospital for Children, London, UK.
Hargreaves
I
I
Grünewald
S
S
D030401:Cytochrome-c Oxidase Deficiency / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000201:enzymology*