June 1991

Autosomal Recessive Lethal Infantile Cytochrome C Oxidase Deficiency

Author Affiliations

From the Pediatric Division (Drs Eshel, Lahat, Barr, and Aladjem) and Department of Genetics (Dr Fried), Assaf Harofeh Medical Center, Sackler School of Medicine, Tel Aviv, Israel; the Department of Clinical Biochemistry, Hadassah Medical Center, Jerusalem, Israel (Drs Barash and Gutman); and the Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY (Dr DiMauro).

Am J Dis Child. 1991;145(6):661-664. doi:10.1001/archpedi.1991.02160060079025

• Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, failure to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death. Two died by age 5 months and one by age 16 months. Cytochrome c oxidase was markedly reduced in skeletal muscle extracts of all three. Three other children of the same family with most probably the same metabolic aberration are also described. We suggest an autosomal recessive inheritance for this lethal mitochondrial myopathy.

(AJDC. 1991;145:661-664)