title: [Combined methylmalonic acidemia and homocystinuria; a case report].
abstract: Combined methylmalonic acidemia and homocystinuria is an inborn error of metabolism of vitamin B12 or cobalamin. It's a rare autosomal recessive disease in which there are several variants depending on the pathogenesis of the metabolic disorder (cblC, cblD, cblF and cblJ). The more frequent and more severe is the cblC variant, which usually manifests in the first months of life, although some cases have been reported at the beginning of adulthood. A proper diagnosis and effective therapeutic approach is fundamental. We report the case of a patient of 18 years with a history of epilepsy who consults for acute renal failure requiring renal replacement therapy and diagnosed with combined methylmalonic acidemia and homocystinuria cblC variant.
authors: Servicio de Endocrinología y Nutrición Hospital Universitario Virgen del Rocío, Unidad Intercentros Virgen del Rocío y Macarena.. ignaciojimenez85@hotmail.com.
authors: Ignacio
authors: I
authors: Jiménez Varo
authors: Unidad de Gestión Clínica de Pediatría Hospital Universitario Virgen del Rocío.. ignaciojimenez85@hotmail.com.
authors: María
authors: M
authors: Bueno Delgado
authors: Servicio de Endocrinología y Nutrición Hospital Universitario Virgen del Rocío, Unidad Intercentros Virgen del Rocío y Macarena.. ignaciojimenez85@hotmail.com.
authors: Elena
authors: E
authors: Dios Fuentes
authors: Servicio de Bioquímica, Unidad de Gestión Clínica de Laboratorio Hospital Universitario Virgen del Rocío. España.. ignaciojimenez85@hotmail.com.
authors: Carmen
authors: C
authors: Delgado Pecellin
authors: Unidad de Gestión Clínica de Pediatría Hospital Universitario Virgen del Rocío.. ignaciojimenez85@hotmail.com.
authors: Antonio
authors: A
authors: González Meneses
authors: Servicio de Endocrinología y Nutrición Hospital Universitario Virgen del Rocío, Unidad Intercentros Virgen del Rocío y Macarena.. ignaciojimenez85@hotmail.com.
authors: Alfonso
authors: A
authors: Soto Moreno
authors: Servicio de Endocrinología y Nutrición Hospital Universitario Virgen del Rocío, Unidad Intercentros Virgen del Rocío y Macarena.. ignaciojimenez85@hotmail.com.
authors: Eva
authors: E
authors: Venegas Moreno
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000628:therapy; D005260:Female; D006712:Homocystinuria / Q000150:complications* / Q000628:therapy; D006801:Humans; D006879:Hydroxocobalamin / Q000627:therapeutic use; D007668:Kidney / Q000000981:diagnostic imaging; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics / Q000628:therapy; D014805:Vitamin B 12 / Q000378:metabolism; D014815:Vitamins / Q000627:therapeutic use
chemical_list: D014815:Vitamins; D014805:Vitamin B 12; D006879:Hydroxocobalamin