Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations

@article{Ijlst1997MolecularBO,
  title={Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations},
  author={Lodewijk Ijlst and Wendy Oostheim and J. P. N. Ruitter and Ronald J.A. Wanders},
  journal={Journal of Inherited Metabolic Disease},
  year={1997},
  volume={20},
  pages={420-422}
}
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is catalysed by the mitochondrial trifunctional protein (MTP), which also contains enoyl-CoA hydratase and 3-ketothiolase activities (Carpenter et al 1992; Uchida et al 1992). The cDNAs encoding the a and β subunits were cloned by Kamijo et al (1994a). Many patients have been described with a defect in this enzyme complex and it appears that in most patients there is an isolated deficiency of the dehydrogenase activity of the MTP. We and others… 

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A new method to identify the G1528C mutation in genomic DNA showing its high frequency (≈90%) and identification of a new mutation (T2198C)

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  • 2006
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Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

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The results indicate that the relationship between the hypothalamus and pituitary in male sexual development may be more complex than previously appreciated, and highlight significant issues regarding the role of the DAX1 gene product in female sexual differentiation.