The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation - Fukao, Toshiyuki; Akiba, Kazuhisa; Goto, Masahiro; Kuwayama, Nobuki; Morita, Mikiko; Hori, Tomohiro; Aoyama, Yuka; Venkatesan, Rajaram; Wierenga, Rik; Moriyama, Yohsuke; Hashimoto, Takashi; Usuda, Nobuteru; et al. (Journal of human genetics, 2014)
Keywords: 3-Hydroxyacyl CoA Dehydrogenases - chemistry; 3-Hydroxyacyl CoA Dehydrogenases - genetics; 3-Hydroxyacyl CoA Dehydrogenases - metabolism; 3-Hydroxybutyryl-CoA dehydrogenase; Acetyl-CoA C-Acetyltransferase - deficiency; Acetyl-CoA C-Acetyltransferase - genetics; Base Sequence; Carnitine - analogs & derivatives; Carnitine - blood; Child; Dehydrogenases; Diagnosis, Differential; DNA Mutational Analysis; Dyskinesias; Electron transport; Enzymatic activity; Enzymes; Fibroblasts; Fibroblasts - metabolism; Gastroenteritis; Glycine - analogs & derivatives; Glycine - urine; Humans; Hydroxybutyrates - urine; Immunoblotting; Inborn errors of metabolism; Ketoacidosis; Lipid Metabolism, Inborn Errors - diagnosis; Lipid Metabolism, Inborn Errors - genetics; Lymphocytes; Male; Mental Retardation, X-Linked; Mitochondria; Mitochondria - metabolism; Models, Molecular; Mutation; Neurodegenerative diseases; Point Mutation; Protein Structure, Tertiary; Asia