| Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency. | |
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MedLine Citation:
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PMID: 12948744 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CoQ transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There are very few reports on human CoQ deficiency. The clinical presentation is usually characterized by: epilepsy, muscle weakness, ataxia, cerebellar atrophy, migraine, myogloblinuria and developmental delay. We describe a patient who presented with neonatal liver and pancreatic insufficiency, tyrosinemia and hyperammonemia and later developed sensorineural hearing loss and Leigh syndrome. Liver biopsy revealed markedly reduced complex I+III and II+III. Addition of CoQ to the liver homogenate restored the activities, suggesting CoQ depletion. Histological staining showed prominent bridging; septal fibrosis and widening of portal spaces with prominent mixed inflammatory infiltrate, associated with interface hepatitis, bile duct proliferation with numerous bile plugs. Electron microscopy revealed a large number of mitochondria, which were altered in shape and size, widened and disordered intercristal spaces. This may be the first case of Leigh syndrome with liver and pancreas insufficiency, possibly caused by CoQ responsive oxphos deficiency. |
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Authors:
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E Leshinsky-Silver; A Levine; A Nissenkorn; V Barash; M Perach; E Buzhaker; M Shahmurov; S Polak-Charcon; D Lev; T Lerman-Sagie |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 79 ISSN: 1096-7192 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2003 Aug |
Date Detail:
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Created Date: 2003-09-01 Completed Date: 2004-06-01 Revised Date: 2005-09-10 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 288-93 Citation Subset: IM |
Affiliation:
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Molecular Genetics and Brunner Institute, and Metabolic-Neurogenetic Unit and Mitochondrial Disease Center, Wolfson Medical Center, Holon, Israel. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Biopsy Electron Transport Complex I / deficiency Electron Transport Complex II / deficiency Electron Transport Complex III / deficiency Hearing Loss, Sensorineural / enzymology, physiopathology Humans Hyperammonemia / enzymology Infant Leigh Disease / enzymology*, physiopathology Liver / enzymology, pathology*, ultrastructure Liver Failure, Acute / enzymology*, pathology Male Metabolism, Inborn Errors / enzymology Mitochondria, Liver / enzymology Mitochondrial Diseases* Oxidative Phosphorylation Pancreas / enzymology, pathology Ubiquinone / deficiency, metabolism* |
| Chemical | |
Reg. No./Substance:
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1339-63-5/Ubiquinone; EC 1.10.2.2/Electron Transport Complex III; EC 1.3.5.1/Electron Transport Complex II; EC 1.6.5.3/Electron Transport Complex I; EC 1.6.5.3/respiratory complex II |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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