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.
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.
Lee
J E
JE
Department of Pediatrics, College of Medicine, Inha University, Inchon, South Korea.
Yoon
H R
HR
Paik
K H
KH
Hwang
S J
SJ
Shim
J W
JW
Chang
Y S
YS
Park
W S
WS
Strauss
A W
AW
Jin
D K
DK
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
D009097:Multienzyme Complexes; D020033:Protein Isoforms; C116917:acylcarnitine; D006147:Guanine; D003596:Cytosine; D063991:Mitochondrial Trifunctional Protein; D002331:Carnitine