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ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis
Mitochondrial short-chain enoyl-CoA hydratase deficiency (ECHS1D) is caused by mutations in ECHS1 (OMIM 602292) and is a recently identified inborn error of valine and fatty acid metabolism. This defect leads to secondary mitochondrial dysfunction. The majority of previously reported patients had th...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5110442/ https://ncbi.nlm.nih.gov/pubmed/26920905 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_538 |
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