2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease

@article{PrezCerd20052Methyl3HydroxybutyrylCoAD,
  title={2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease},
  author={Celia P{\'e}rez-Cerd{\'a} and Judit Garc{\'i}a-Villoria and Rob Ofman and Pedro Ruiz Sala and Bego{\~n}a Merinero and Julio C{\'e}sar Ramos and Mar{\'i}a Teresa Garc{\'i}a-Silva and Beatriz Beseler and Jaime Dalmau and Ronald J. A. Wanders and Magdalena Ugarte and A Garc{\'i}a Ribes},
  journal={Pediatric Research},
  year={2005},
  volume={58},
  pages={488-491}
}
We describe three patients, from two Spanish families, with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a recently described X-linked neurodegenerative inborn error of isoleucine metabolism. Two of them are males with severe lactic acidosis suggestive of a mitochondrial encephalopathy, and the third is a female who was less severely affected, suggesting skewed X-inactivation. Molecular studies revealed a new missense mutation, 740A→G, in one family and a previously described… CONTINUE READING

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