Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy

Wang, YJ; Gao, Q; Wang, W; Xin, XW; Yin, Y; Zhao, C; Jin, YP

Jin, YP (通讯作者)，Shandong First Med Univ, Shandong Prov Hosp, Intens Care Unit, Dept Pediat, 324 Jingwu Rd, Jinan 250021, Shandong, Peoples R China.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2022; 35 (9): 1194

Abstract

Objectives Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase, T2) is necessary for the catabolism of ketone bodies andisoleucine. T2 deficienc......

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