Cytochrome c oxidase deficiency in muscle with dicarboxylic aciduria and renal tubular acidosis.
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.
Pintos-Morell
G
G
Department of Pediatrics, University of California San Diego, La Jolla 92093-0609.
Haas
R
R
Prodanos
C
C
DiMauro
S
S
Nyhan
W L
WL
D000141:Acidosis, Renal Tubular / Q000201:enzymology* / Q000628:therapy; D000600:Amino Acids, Dicarboxylic / Q000652:urine*; D001639:Bicarbonates / Q000008:administration & dosage; D002331:Carnitine / Q000008:administration & dosage / Q000172:deficiency*; D030401:Cytochrome-c Oxidase Deficiency; D005183:Failure to Thrive / Q000201:enzymology* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology*; D012256:Riboflavin / Q000008:administration & dosage; D012964:Sodium / Q000008:administration & dosage; D017693:Sodium Bicarbonate
D000600:Amino Acids, Dicarboxylic; D001639:Bicarbonates; D017693:Sodium Bicarbonate; D012964:Sodium; D002331:Carnitine; D012256:Riboflavin