fig1

Use of sodium D, L-3-hydroxybutyrate as adjunct therapy in two siblings with HMG-CoA lyase deficiency

Figure 1. Biochemical pathway illustrating role of HMG-CoA lyase in leucine catabolism and ketogenesis. Mitochondrial HMG-CoA lyase catalyses the cleavage of HMG-CoA to acetyl-CoA and acetoacetate, the common final step of ketogenesis and leucine degradation, resulting in a diagnostic urinary organic acid pattern, (elevated 3-hydroxy-3-methylglutaric, 3-methylgutaconic, 3-methylglutaric, and 3-hydroxyisovaleric acids) with absence of ketonuria.

Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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