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Pyruvate carboxylase deficiency
Author(s) -
Bartlett K.,
Ghneim H. K.,
Stirk J. H.,
Dale G.,
Alberti K. G. M. M.
Publication year - 1984
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/bf03047379
Subject(s) - pyruvate carboxylase , carboxylation , metabolic disease , biochemistry , medicine , chemistry , endocrinology , enzyme , catalysis
The causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.