Title |
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, December 2013
|
DOI | 10.1186/1750-1172-8-188 |
Pubmed ID | |
Authors |
Sacha Ferdinandusse, Hans R Waterham, Simon JR Heales, Garry K Brown, Iain P Hargreaves, Jan-Willem Taanman, Roxana Gunny, Lara Abulhoul, Ronald JA Wanders, Peter T Clayton, James V Leonard, Shamima Rahman |
Abstract |
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 deficiencies, known as the multiple mitochondrial dysfunctions syndrome. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 33% |
United Kingdom | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 2 | 67% |
Members of the public | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 63 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 9 | 14% |
Student > Master | 9 | 14% |
Student > Ph. D. Student | 8 | 13% |
Student > Bachelor | 6 | 10% |
Student > Postgraduate | 5 | 8% |
Other | 16 | 25% |
Unknown | 10 | 16% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 18 | 29% |
Biochemistry, Genetics and Molecular Biology | 16 | 25% |
Agricultural and Biological Sciences | 5 | 8% |
Neuroscience | 2 | 3% |
Nursing and Health Professions | 2 | 3% |
Other | 7 | 11% |
Unknown | 13 | 21% |