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Pyruvate Carboxylase Deficiency
Book chapter

Pyruvate Carboxylase Deficiency

K. Bartlett, H. K. Ghneim, J.-H. Stirk, G. Dale and K. G. M. M. Alberti
Organic Acidurias, pp.74-78
Springer Netherlands
DOI: https://doi.org/10.1007/978-94-009-5612-4_16

Abstract

Biotin Deficiency Biotinidase Deficiency Defective Activity Lactic Acidaemia Pyruvate Carboxylase
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.

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