Enzyme That Causes Genetic Diseases Investigated

Researchers have conducted a research project to gain in-depth knowledge of the structure of pyruvate carboxylase when it is in solution (in the "natural" state). Pyruvate carboxylase is a metabolic enzyme that plays a fundamental role in the metabolism of fatty acids (the components of fats) and sugars. When its function is not adequately performed (for example, when mutations in the gene arise) diverse metabolic diseases of genetic origin are triggered, amongst them lactic acidaemia, hypoglycaemia, and psycho-motor retardation.

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