Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

@article{Olpin2005BiochemicalCA,
  title={Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency},
  author={Simon Edward Olpin and Sarah V Clark and Brage S Andresen and Claudia Bischoff and Rikke Katrine Jentoft Olsen and N. Gregersen and Anupam Chakrapani and Maria Downing and Nigel J. Manning and Mark J Sharrard and James Robert Bonham and Francesco Muntoni and Douglas Turnbull and Morteza Pourfarzam},
  journal={Journal of Inherited Metabolic Disease},
  year={2005},
  volume={28},
  pages={533-544}
}
General mitochondrial trifunctional protein (TFP) deficiency leads to a wide clinical spectrum of disease ranging from severe neonatal/infantile cardiomyopathy and early death to mild chronic progressive sensorimotor poly-neuropathy with episodic rhabdomyolysis. Isolated long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency resulting from the common Glu510Gln mutation usually gives rise to a moderately severe phenotype with multiorgan involvement with high morbidity and mortality… CONTINUE READING