Abstract
A 3y/o male presented with a progressive neurologic disorder characterized by hypotonia, ophthalmoplegia and ataxia. Post-mortum studies at 4 1/2y revealed Leigh's disease. Biochemical findings included elevation of blood lactate (L) (ranging from 1.9 to 7.0mM, normal mean ± SD 1.0±0.4mM), pyruvate (P) (0.11 to 0.25, normal 0.11±0.03mM) and L/P ratio (14 to 35, normal 10 to 18). β-OH-butyrate (BOH), acetoacetate and L were intermittently present in urine. Plasma amino acids were normal. CSF L (4.7mM) and P (0.24mM) were elevated. Increased urinary excretion of glycine and alanine was present. No increase in blood L or P was noted after IV glucose (100mg/kg). During an 18 hr fast blood BOH increased to 2000μM (normal 91±81μM, n=4) with little change in blood L, P, or glucose levels. Skeletal muscle biopsy (pre-mortum) showed absent CO on histochemical staining. Muscle mitochondria exhibited decreased rates of State 3 respiration; 47 natoms O2/min/mg protein with pyruvate/malate and 63 natoms O2/min/mg protein with succinate/rotenone (reported normal rates 147 and 158 natoms O2/min/mg protein, respectively). Muscle cytochrome spectrum obtained from the difference in absorption of reduced and oxidized forms revealed an absence of the 605 nM peak corresponding to CO. This case confirms the findings of Willems JL, et al (Ped 60:850, 1977) indicating that a subgroup of patients with Leigh's encephalomyelopathy have CO deficiency.
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Hoganson, G., Paulson, D., Chun, R. et al. DEFICIENCY OF MUSCLE CYTOCHROME C OXIDASE (CO) IN LEIGH'S DISEASE. Pediatr Res 18 (Suppl 4), 222 (1984). https://doi.org/10.1203/00006450-198404001-00772
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DOI: https://doi.org/10.1203/00006450-198404001-00772
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