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

✍ Scribed by S. E. Olpin; S. Clark; B. S. Andresen; C. Bischoff; R. K. J. Olsen; N. Gregersen; A. Chakrapani; M. Downing; N. J. Manning; M. Sharrard; J. R. Bonham; F. Muntoni; D. N. Turnbull; M. Pourfarzam


Publisher
Springer
Year
2005
Tongue
English
Weight
132 KB
Volume
28
Category
Article
ISSN
0141-8955

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The mitochondrial trifunctional protein (TFP) is a multienzyme complex of the fatty acid beta-oxidation cycle. It is composed of four alpha-subunits (HADHA) harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits (HADHB) harboring long