[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: Ignacio Jiménez Varo, María Bueno Delgado, Elena Dios Fuentes, Carmen Delgado Pecellin, Antonio González Meneses, Alfonso Soto Moreno, Eva Venegas Moreno
• Journal: Nutricion hospitalaria (Nutr Hosp) Vol. 31 Issue 4 Pg. 1885-8 (Apr 01 2015) ISSN: 1699-5198 [Electronic] Spain
• Vernacular Title: Combinación de acidemia metilmalónica y homocisteinuria; a propósito de un caso.
• PMID: 25795986 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

Chemical References

• Vitamins
• Vitamin B 12
• Hydroxocobalamin

Topics

• Adolescent
• Amino Acid Metabolism, Inborn Errors (complications, therapy)
• Female
• Homocystinuria (complications, therapy)
• Humans
• Hydroxocobalamin (therapeutic use)
• Kidney (diagnostic imaging)
• Metabolism, Inborn Errors (complications, genetics, therapy)
• Vitamin B 12 (metabolism)
• Vitamins (therapeutic use)