JIMENEZ VARO, Ignacio et al. Combined methylmalonic acidemia and homocystinuria: a case report. []. , 31, 4, pp.1885-1888. ISSN 1699-5198.  https://dx.doi.org/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.

: Methylmalonic acidemia; Homocystinuria; cblC; Cobalamin.

        · |     · |     · ( pdf )