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February 1984

Mitochondrial Defects in Lowe's Oculocerebrorenal Syndrome

Author Affiliations

From the Neurology Service, Ramón y Cajal Center, Madrid (Drs Gobernado, Lousa, and Gimeno); and the Experimental Biochemistry Center, Puerta de Hierra Clinic, Madrid (Dr Gonsalvez).

Arch Neurol. 1984;41(2):208-209. doi:10.1001/archneur.1984.04050140106037

• We performed biochemical studies on isolated mitochondria from a muscle biopsy specimen in a patient with Lowe's syndrome. Respiratory controls of mitochondrial preparations with substrates reducing nicotinamide adenine dinucleotide and with a flavoprotein-linked substrate were markedly diminished, but the oxygen consumption was normal with ascorbate and tetramethylphenylenediamine as substrates, which suggested a defect in electron transport prior to the cytochromes. The organelles also showed decreased adenosine diphosphate phosphorylate-oxygen ratio, indicating a partial uncoupling. These findings suggest that Lowe's syndrome could be considered a mitochondrial disease.

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