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José M. Gobernado, MD; Manuel Lousa, MD; Alberto Gimeno, MD; Mario Gonsalvez, MD

Arch Neurol. 1984;41(2):208-209.

Abstract
• 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.

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).

Footnotes
Accepted for publication April 14, 1983.

Reprint requests to Neurology Service, Centro Ramón y Cajal, Carret de Colmenar, Km 9,100, Madrid-34, Spain (Dr Gobernado).

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