Exploring glutaric acidemia type I and the lysine oxidation pathway
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Glutaric acidemia type I (GA1) is a recessive inborn error of lysine metabolism caused by a deficiency of glutaryl CoA dehydrogenase (GCDH) resulting in accumulation of glutaric and 3 hydroxyglutaric acids and acute striatal necrosis. The latter is prevented if detected early and treatment begun before crisis. This thesis aims to further our understanding of GA1 following encephalopathic crisis, improve the ability to diagnose patients, takes an initial step towards testing a new treatment, and explores the use of zebrafish as a model of disease. The literature describes a loss of medium spiny ...