HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

@inproceedings{Ferdinandusse2013HIBCHMC,
  title={HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase},
  author={Sacha Ferdinandusse and H. R. Waterham and Simon J. R. Heales and Garry Brown and Iain P. Hargreaves and J. W. Taanman and Roxana S. Gunny and Lara Abulhoul and Ronald Wanders and Peter Theodore Clayton and James V. Leonard and Shamima Rahman},
  booktitle={Orphanet journal of rare diseases},
  year={2013}
}
BACKGROUND Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria caused by disturbance of valine catabolism. Multiple mitochondrial respiratory chain (RC) enzyme deficiencies can arise from a number of mechanisms, including defective maintenance or expression of mitochondrial DNA. Impaired biosynthesis of iron-sulphur clusters and lipoic acid can lead to pyruvate dehydrogenase complex (PDHc) deficiency in addition to multiple RC… CONTINUE READING
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HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

American journal of medical genetics. Part A • 2014
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