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 Lee; H R Yoon; K H Paik; S J Hwang; J W Shim; Y S Chang; W S Park; A W Strauss; D K Jin

doi:10.1023/a:1025119505982

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 Inherit Metab Dis. 2003;26(4):403-6. doi: 10.1023/a:1025119505982.

Authors

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

Affiliation

¹ Department of Pediatrics, College of Medicine, Inha University, Inchon, South Korea.

PMID: 12971428
DOI: 10.1023/a:1025119505982

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Metabolism, Inborn Errors / blood
Amino Acid Metabolism, Inborn Errors / diagnosis*
Carnitine / analogs & derivatives*
Carnitine / blood*
Cytosine
DNA Mutational Analysis
Fatal Outcome
Guanine
Humans
Infant, Newborn
Male
Mitochondrial Trifunctional Protein
Multienzyme Complexes / deficiency*
Multienzyme Complexes / genetics
Multienzyme Complexes / metabolism*
Mutation
Protein Isoforms / deficiency
Protein Isoforms / genetics

Substances

Multienzyme Complexes
Protein Isoforms
acylcarnitine
Guanine
Cytosine
Mitochondrial Trifunctional Protein
Carnitine