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Brain amino acid abnormalities in pyruvate carboxylase deficiency
Author(s) -
Perry T. L.,
Haworth J. C.,
Robinson B. H.
Publication year - 1985
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/bf01801666
Subject(s) - glutamine , pyruvate carboxylase , citric acid cycle , cerebrospinal fluid , citrate synthase , glutamate receptor , biochemistry , glutamic acid , amino acid , medicine , endocrinology , lactic acidosis , lactic acid , acidosis , pyruvate dehydrogenase complex , metabolism , biology , enzyme , bacteria , genetics , receptor
Abstract Amino acids were measured in several regions of autopsied brain from an infant who died with congenital lactic acidosis due to pyruvate carboxylase deficiency (McKusick 26615), as well as in cerebrospinal fluid (CSF) and plasma of four living infants with this disorder. Glutamine content was greatly reduced in all brain regions, while glutamic acid and proline contents were elevated. The γ‐aminobutyric acid (GABA) content was normal in brain. Glutamine concentrations in CSF and plasma were also decreased in the living patients. Glutamine may serve as a pool to provide glutamate and GABA for use as neurotransmitters, and to provide α‐ketoglutarate for the tricarboxylic acid cycle when oxaloacetate can no longer be formed directly from pyruvate.