Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

3-Hydroxy-3-methylglutaric aciduria is a rare human autosomal recessive disorder caused by deficiency of 3-hydroxy-3-methylglutaryl CoA lyase (HL). This mitochondrial enzyme catalyzes the common final step of leucine degradation and ketogenesis. Acute symptoms include vomiting, seizures and lethargy...

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Detalles Bibliográficos
Autores principales: Puisac, Beatriz, Arnedo, María, Casale, Cesar H., Ribate, María Pilar, Castiella, Tomás, Ramos, Feliciano J., Ribes, Antonia, Pérez-Cerdá, Celia, Casals, Nuria, Hegardt, Fausto G., Pié, Juan
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903694/
https://www.ncbi.nlm.nih.gov/pubmed/20532825
http://dx.doi.org/10.1007/s10545-010-9097-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903694/
https://www.ncbi.nlm.nih.gov/pubmed/20532825
http://dx.doi.org/10.1007/s10545-010-9097-3

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