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).
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References
1.
Van Biervliet Jpam, Bruinsvis L., Ketting D., et al: Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscle. Pediatr Res1977;11:1088-1093.
2.
Di Mauro S., Mendell JR, Sahenk Z., et al: Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency . Neurology1980;30:795-804.
3.
Bresolin N., Zeviani M., Bonilla E., et al: Fatal infantile cytochrome c oxidase deficiency: Decrease of immunologically detectable enzyme in muscle. Neurology1985;35:802-812.
Johnson MA, Turnbull DM, Dick DJ, Sherratt HSA: Partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. J Neurol Sci1983 ;60:31-53.
6.
Miyabayashi S., Ito T., Narisawa K., et al: Biochemical study in 28 children with lactic acidosis in relation to Leigh's encephalomyelopathy . Eur J Pediatr1985;143:278-282.
7.
Maehara M., Ogasawara N., Mizutani N., et al: Cytochrome c oxidase deficiency in Menkes kinky hair disease . Brain Dev1983;5:533-540.
8.
Di Mauro S., Nicholson JS, Hays AO, et al: Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol1983;14:226-234.
9.
Maughan RJ: A simple, rapid method for the determination of glucose, lactate, pyruvate, alanine, 3-hydroxybutyrate and acetoacetate on a single 20 μl blood sample . Clin Chim Acta1982;122:231-240.
10.
McGarry JD, Foster DW: Regulation of hepatic fatty acid oxidation and ketone body production . Annu Rev Biochem1980; 49:395-420.
11.
Spackman DH , Stein WH, Moore S.: Automatic recording apparatus for use in the chromatography of amino acids. Anal Chem1958;30:1190-1206.
12.
Sweetman L.: Qualitative and quantitative analysis of organic acids in physiologic fluids for diagnosis of the organic acidurias. In Nyhan WL: Abnormalities in Amino Acid Metabolism in Clinical Medicine. Norwalk, CT, Appleton-Century-Crofts, 1984 , pp 419-453.
13.
Burstone MS : Histochemical demonstration of cytochrome oxidase with new amine reagents. J Histochem Cytochem1960;8: 63-70.
14.
Angelini A. , Bresolin N., Pegolo G., et al: Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting and mental impairment . Neurology1986;36:1048-1052.
15.
Pettersen JE , Jellum E., Eldjarn L.: The occurrence of adipic and suberic acid in urine from ketotic patients. Clin Chim Acta1972; 38:17-24.
16.
Kuhara T., Inoue Y., Matsumoto M., et al: Urinary organic acid profiles of patients with cytochrome c oxidase deficiency, abstract PO-130. 4th International Congress of Inborn Errors of Metabolism, Sendai, Japan, May 26-30, 1987, p 143.
17.
Gregersen N. , Eintzensen H., Kolvraa S., et al: C6-C10-Dicarboxylic aciduria: Investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res1982;16:861-868.
18.
Lipkin PH, Roe CR, Goodman SI, Batshaw ML: A case of glutaric acidemia, type I: Effect of riboflavin and carnitine . J Pediatr1988;112:62-66.
19.
Barth PG, Scholte HR, Berden JA, et al: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci1983;62:327-355.
20.
Morgan-Hughes JA, Hayes DJ, Cooper M., Clark JB: Mitochondrial myopathies: Deficiencies localized to complex I and complex III of the mitochondrial respiratory chain. Biochem Soc Trans1985 ;13:648-650.
21.
Roodhooft AM , Van Acker KJ, Martin JJ, et al: Benign mitochondrial myopathy with deficiency of NADH-CoA reductase and cytochrome c oxidase. Neuropediatrics1986;17:221-226.
22.
Wolff JA, Thuy LP, Haas R., et al: Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism. Lancet1986;1:289-291.
23.
Mitchell ME : Carnitine metabolism in human subjects. II. Values of carnitine in biological fluids and tissues of "normal" subjects . Am J Clin Nutr1981;31:481-491.
24.
Carrier HN, Berthillier G.: Carnitine levels in normal children and adults and in patients with diseased muscle. Muscle Nerve1980;3:326-334.
