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

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

Biomedical Journal of Scientific and Technical Research（2019）

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摘要

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).

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