Autosomal recessive lethal infantile cytochrome C oxidase deficiency

G. Eshel, E. Lahat, K. Fried, J. Barr, V. Barash, A. Gutman, S. DiMauro and M. Aladjem
Pediatric Division, Assaf Harofeh Medical Center, Sackler School of Medicine, Tel Aviv, Israel.

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.