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An unusual aminoacidopathy associated with mitochondrial encephalomyopathy
Author(s) -
Perry T. L.,
Hansen S.,
Booth F. A.,
Penn A. M. W.,
Jones K.,
Dilling L. A.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805527
Subject(s) - ornithine , amino acid , citrulline , methionine , biology , arginine , biochemistry , mitochondrial encephalomyopathy , medicine , mitochondrial myopathy , respiratory chain , endocrinology , urea cycle , ornithine transcarbamylase , mitochondrial encephalomyopathies , aminoaciduria , mitochondrion , alanine , mutation , mitochondrial dna , gene
Summary 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.