An unusual aminoacidopathy associated with mitochondrial encephalomyopathy

Journal of Inherited Metabolic Disease
T L PerryL A Dilling

Abstract

Five patients from two unrelated pedigrees are affected by an inherited form or forms of mitochondrial encephalomyopathy in which the exact site of the block in the respiratory chain has yet to be identified. All five patients regularly exhibit an unusual aminoacidopathy evident both in fasting plasma and in CSF. Alanine concentrations are elevated, reflecting high tissue pyruvate and lactate levels. Concentrations of the four essential amino acids threonine, methionine, tryptophan and lysine are substantially reduced, as are those of citrulline, ornithine and arginine. This pattern of amino-acid deficiency is apparently not due to failure to absorb the dibasic amino acids, to any abnormality of the urea cycle, to excessive synthesis and turnover of creatine, or to protein malnutrition. The aminoacidopathy presumably is a metabolic consequence of one or more impairments in the electron transport chain in mitochondria. A detailed explanation of its aetiology needs to be sought.

References

Mar 1, 1975·Journal of Neurochemistry·T L PerryJ Kennedy
Jan 1, 1987·Journal of Inherited Metabolic Disease·A M Kroon, C Van den Bogert
Jul 1, 1989·The Journal of Pediatrics·F A BoothW J Rhead
Jan 1, 1987·Journal of Inherited Metabolic Disease·S DiMauroE A Schon
Oct 1, 1986·Brain : a Journal of Neurology·R K PettyJ A Morgan-Hughes

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Citations

Mar 12, 2005·Journal of the Neurological Sciences·Ali NainiEric A Schon
Jul 1, 1989·The Journal of Pediatrics·F A BoothW J Rhead
Jan 1, 1995·Acta Anaesthesiologica Scandinavica. Supplementum·G R ParkP Ferenci

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