Literature DB >> 12971428

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.

J E Lee1, H R Yoon, K H Paik, S J Hwang, J W Shim, Y S Chang, W S Park, A W Strauss, D K Jin.   

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.

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Year:  2003        PMID： 12971428     DOI： 10.1023/a:1025119505982

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  2 in total

1.  Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.

Authors:  D Matern; A W Strauss; S L Hillman; E Mayatepek; D S Millington; F K Trefz
Journal:  Pediatr Res       Date:  1999-07       Impact factor: 3.756

2.  Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex. Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes.

Authors:  T Kamijo; T Aoyama; J Miyazaki; T Hashimoto
Journal:  J Biol Chem       Date:  1993-12-15       Impact factor: 5.157
  2 in total

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