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Since the enzyme encoded by the HMGCL gene is also involved in leucine catabolism, mutations in HMGCL also result in defects in metabolism of this amino acid and consequently leads to accumulation of leucine metabolites, 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid

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