title: A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
abstract: We report a Korean case, consistent with a biochemical diagnosis of trifunctional protein (TFP) deficiency, in which molecular diagnosis revealed a novel mutation in the alpha-subunit of TFP and the rare combination of two intergenic region (C/C and G/G) polymorphisms.
authors.affiliation: Department of Pediatrics, College of Medicine, Inha University, Inchon, South Korea.
authors.forename: J E
authors.initials: JE
authors.lastname: Lee
authors.forename: H R
authors.initials: HR
authors.lastname: Yoon
authors.forename: K H
authors.initials: KH
authors.lastname: Paik
authors.forename: S J
authors.initials: SJ
authors.lastname: Hwang
authors.forename: J W
authors.initials: JW
authors.lastname: Shim
authors.forename: Y S
authors.initials: YS
authors.lastname: Chang
authors.forename: W S
authors.initials: WS
authors.lastname: Park
authors.forename: A W
authors.initials: AW
authors.lastname: Strauss
authors.forename: D K
authors.initials: DK
authors.lastname: Jin
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000097:blood*; D003596:Cytosine; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006147:Guanine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism*; D009154:Mutation; D020033:Protein Isoforms / Q000172:deficiency / Q000235:genetics
chemical_list: D009097:Multienzyme Complexes; D020033:Protein Isoforms; C116917:acylcarnitine; D006147:Guanine; D003596:Cytosine; D063991:Mitochondrial Trifunctional Protein; D002331:Carnitine