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Biochemical Characteristics of the Inhibitor

Jerome V. Murphy, MD; Linda J. Craig, MS; Robert H. Glew, PhD

Arch Neurol. 1974;31(4):220-227.

Abstract
Leigh disease has distinct neuropathologic characteristics, but a poorly understood pathogenesis. All patients with this diagnosis proved at autopsy have had an inhibitor to the synthesis of thiamine triphosphate in their body fluids and reduced thiamine triphosphate concentration in their brains. To understand better the role of the inhibitor in Leigh disease, we have purified it from urines of patients with, and obligate carriers of, Leigh disease. The effect of the inhibitor is reduced by treating the patient with thiamine derivatives; it is inactivated by trypsin and acid (pH 3.0) and unaffected by treatment with neuraminidase, phosphodiesterase, and alkali (pH 9.5). Based on gel filtration chromatography on a fractionating column (Sephadex), the molecular weight of the inhibitor is about 37,000.

Author Affiliations
From the departments of pediatrics (Dr. Murphy and Ms. Craig), biochemistry (Dr. Glew), and neurology (Dr. Murphy), Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine.

Footnotes
Accepted for publication March 7, 1974.

Reprint requests to Children's Hospital of Pittsburgh, 125 DeSoto St, Pittsburgh, PA 15213 (Dr. Murphy).

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