Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the <i>MCEE</i> gene.

Waters, Paula J; Thuriot, Fanny; Clarke, Joe T R; Gravel, Serge; Watkins, David; Rosenblatt, David S; Lévesque, Sébastien

Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.

Waters, Paula J; Thuriot, Fanny; Clarke, Joe T R; Gravel, Serge; Watkins, David; Rosenblatt, David S; Lévesque, Sébastien.

Afiliación

Waters PJ; Medical Genetics Service, Department of Pediatrics, Centre hospitalier universitaire de Sherbrooke (CHUS) and University of Sherbrooke, Sherbrooke, Quebec, Canada.
Thuriot F; Medical Genetics Service, Department of Pediatrics, Centre hospitalier universitaire de Sherbrooke (CHUS) and University of Sherbrooke, Sherbrooke, Quebec, Canada.
Clarke JT; Medical Genetics Service, Department of Pediatrics, Centre hospitalier universitaire de Sherbrooke (CHUS) and University of Sherbrooke, Sherbrooke, Quebec, Canada.
Gravel S; Medical Genetics Service, Department of Pediatrics, Centre hospitalier universitaire de Sherbrooke (CHUS) and University of Sherbrooke, Sherbrooke, Quebec, Canada.
Watkins D; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Lévesque S; Medical Genetics Service, Department of Pediatrics, Centre hospitalier universitaire de Sherbrooke (CHUS) and University of Sherbrooke, Sherbrooke, Quebec, Canada.

Mol Genet Metab Rep ; 9: 19-24, 2016 Dec.

Article en En | MEDLINE | ID: mdl-27699154

Palabras clave

C3, C3, (= propionyl) carnitine; C4DC, C4dicarboxyl (= methylmalonyl + succinyl) carnitine; CSF, cerebrospinal fluid; Complementation analysis; Intronic mutation; MCE, methylmalonyl-coA epimerase; MCEE, gene encoding methylmalonyl-coA epimerase; MMA, methylmalonic acid or methylmalonate; MUT, methylmalonyl-coA mutase; Methylmalonic aciduria; Methylmalonyl-coA epimerase; Methylmalonyl-coA racemase; PCC, propionyl-coA carboxylase; Propionic aciduria; Splicing mutation

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2016 Tipo del documento: Article País de afiliación: Canadá

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google