Jiménez Varo Ignacio, Bueno Delgado María, Dios Fuentes Elena, Delgado Pecellin Carmen, González Meneses Antonio, Soto Moreno Alfonso, Venegas Moreno Eva
Servicio de Endocrinología y Nutrición Hospital Universitario Virgen del Rocío, Unidad Intercentros Virgen del Rocío y Macarena..
Unidad de Gestión Clínica de Pediatría Hospital Universitario Virgen del Rocío..
Nutr Hosp. 2015 Apr 1;31(4):1885-8. doi: 10.3305/nh.2015.31.4.8544.
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.
甲基丙二酸血症合并高胱氨酸尿症是一种维生素B12或钴胺素代谢的先天性疾病。它是一种罕见的常染色体隐性疾病，根据代谢紊乱的发病机制（cblC、cblD、cblF和cblJ）有几种变体。cblC变体更为常见且更为严重，通常在生命的最初几个月出现，尽管也有一些病例在成年初期被报告。正确的诊断和有效的治疗方法至关重要。我们报告了一名18岁癫痫患者的病例，该患者因急性肾衰竭前来咨询，需要进行肾脏替代治疗，并被诊断为甲基丙二酸血症合并高胱氨酸尿症cblC变体。
