3-hydroxy-3-methylglutaric aciduria is a rare disease characterized by the lack of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase (HL), an enzyme presenting into two different isoforms: the first one, located in mithocondria, catalyzes the conversion of HMG-CoA into acetoacetate and acetyl-CoA, while the second one, expressed in peroxisomes, is hypothesized to be involved in cholesterol synthesis and long-chain fatty acid degradation [2]. Here, HMGCL is linked to 3-Methylglutaric aciduria.