Article
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Human mutation - 1 Mar 2009
Menao Sebastián, López-Viñas Eduardo, Mir Cecilia, Puisac Beatriz, Gratacós Esther, Arnedo María, Carrasco Patricia, Moreno Susana, Ramos Mónica, Gil María Concepción, Pié Angeles, Ribes Antonia, Pérez-Cerda Celia, Ugarte Magdalena, Clayton Peter T, Korman Stanley H, Serra Dolors, Asins Guillermina, Ramos Feliciano J, Gómez-Puertas Paulino, Hegardt Fausto G, Casals Nuria, Pié Juan
Abstract excerpt
3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that affects ketogenesis and L-leucine catabolism. The clinical acute symptoms include vomiting, convulsions, metabolic acidosis, hypoketotic hypoglycaemia and lethargy. To date, 33 mutations in 100 patients have been reported in the HMGCL gene. In this study 10 new mutations in 24 patients are described. They include: 5 missense...
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