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Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency
Author(s) -
Brown G. K.,
Scholem R. D.,
Hunt S. M.,
Harrison J. R.,
Pollard A. C.
Publication year - 1987
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/bf01799978
Subject(s) - lactic acidosis , lactic dehydrogenase , acidosis , carbamyl phosphate , medicine , glucose 6 phosphate dehydrogenase deficiency , pyruvate dehydrogenase complex , endocrinology , biology , biochemistry , enzyme
Summary A patient who presented in the newborn period with severe lactic acidosis and hyperammonaemia has been shown to have a specific defect in the pyruvate dehydrogenase complex. The secondary inhibition of ureagenesis in this patient appears to be due to a functional deficiency of carbamyl phosphate synthetase.
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