Abstract
Pyruvate carboxylase plays a central role in the regulation of the flux of carbon in metabolism1, not only in liver and kidney tissues with a high activity of pyruvate carboxylase but in other tissues as well, particularly in the developing brain2. A deficiency of this enzyme may therefore give rise to a variety of biochemical abnormalities and clinical symptoms. A further complication is the possible relationship with subacute necrotizing encephalomyelopathy (Leigh) or SNE3. However, this histopathologically defined disease may be associated with more than one biochemical abnormality4, such as disorders in thiamine triphosphate metabolism5, pyruvate dehydrogenase deficiency6 and pyruvate carboxylase deficiency7.
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Hommes, F.A., Schrijver, J., Dias, T. (1980). Pyruvate carboxylase deficiency, studies on patients and on an animal model system. In: Burman, D., Holton, J.B., Pennock, C.A. (eds) Inherited Disorders of Carbohydrate Metabolism. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-9215-3_16
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DOI: https://doi.org/10.1007/978-94-009-9215-3_16
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