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Journal of Child Neurology
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Cytochrome c Oxidase Deficiency in Muscle With Dicarboxylic Aciduria and Renal Tubular Acidosis

Guillem Pintos-Morell, MD

Department of Pediatrics, University of California San Diego, La Jolla, CA

Richard Haas, MD

Department of Neurosciences University of California San Diego, La Jolla, CA

Christina Prodanos, BA

Department of Pediatrics, University of California San Diego, La Jolla, CA

Salvatore DiMauro, MD

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases Columbia University, College of Physicians and Surgeons, New York, NY

William L. Nyhan, MD, PhD

Department of Pediatrics, University of California San Diego, La Jolla, CA

A patient with deficient activity of cytochrome c oxidase in muscle presented at 1 year of age with extreme failure to thrive. He was found to have dicarboxylic aciduria, renal tubular acidosis, and deficiency of carnitine. Treatment with sodium bicarbonate, riboflavin, and carnitine led to considerable improvement in growth and a significant reduction in the dicarboxylic aciduria. (J Child Neurol 1990;5:147-152).

Journal of Child Neurology, Vol. 5, No. 2, 147-152 (1990)
DOI: 10.1177/088307389000500216
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Home page
 Arch Pediatr Adolesc MedHome page
K. Keppler and C. Cunniff
Variable Presentation of Cytochrome c Oxidase Deficiency
Arch Pediatr Adolesc Med, November 1, 1992; 146(11): 1349 - 1352.
[Abstract] [PDF]