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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
Author(s) -
Lee J. E.,
Yoon H. R.,
Paik K. H.,
Hwang S. J.,
Shim J. W.,
Chang Y. S.,
Park W. S.,
Strauss A. W.,
Jin D. K.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1025119505982
Subject(s) - dried blood spot , mitochondrial dna , medicine , human genetics , pediatrics , biology , genetics , gene
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 α‐subunit of TFP and the rare combination of two intergenic region (C/C and G/G) polymorphisms.