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Beta-Ketothiolase Deficiency as A Treatable Neurometabolic Disorder: A Case Report Due to A Novel Compound Heterozygote Mutations in ACAT1 Gene

Ali Reza Tavasoli, Parastoo Rostami, Reyhaneh Mohsenipour, Reyhaneh Kameli, Masoud Garshasbi, Mahmoud Reza Ashrafi

Abstract: 2-methylacetoacetyl CoA thiolase enzyme acts at the end stage of isoleucine amino acid catabolism pathway and is involved in the ketone body metabolism [1] (Figure 1).
Keywords: Amino acid / Body Metabolism / Enzyme Acts / Heterozygote Mutations / Neurometabolic Disorder / Methylacetoacetyl Coa / Report Due / Beta Ketothiolase / Isoleucine Amino / thiolase enzyme

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