Literature DB >> 9779804

Methylmalonic aciduria (cblF): case report and response to therapy.

D J Waggoner1, K Ueda, C Mantia, S B Dowton.   

Abstract

Methylmalonic acidemia can be secondary to a deficiency of methylmalonyl CoA mutase or to a defect of cobalamin metabolism that is classified by complementation group. We report on a new patient with cblF complementation group that is associated with an elevation of both methylmalonic acid and homocysteine, and her outcome in response to routine therapy and a dietary restriction.

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Year:  1998        PMID： 9779804

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

Review 1.  Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.

Authors:  Susann Gailus; Wolfgang Höhne; Bruno Gasnier; Peter Nürnberg; Brian Fowler; Frank Rutsch
Journal:  J Mol Med (Berl)       Date:  2010-02-20       Impact factor: 4.599

2.  A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.

Authors:  Susann Gailus; Terttu Suormala; Ayse Gül Malerczyk-Aktas; Mohammad R Toliat; Tanja Wittkampf; Martin Stucki; Peter Nürnberg; Brian Fowler; Julia B Hennermann; Frank Rutsch
Journal:  J Inherit Metab Dis       Date:  2010-02-03       Impact factor: 4.982

Review 3.  Cobalamin coenzyme forms are not likely to be superior to cyano- and hydroxyl-cobalamin in prevention or treatment of cobalamin deficiency.

Authors:  Rima Obeid; Sergey N Fedosov; Ebba Nexo
Journal:  Mol Nutr Food Res       Date:  2015-05-12       Impact factor: 5.914

Review 4.  Vitamin B(12) metabolism during pregnancy and in embryonic mouse models.

Authors:  Maira A Moreno-Garcia; David S Rosenblatt; Loydie A Jerome-Majewska
Journal:  Nutrients       Date:  2013-09-10       Impact factor: 5.717

Review 5.  Vitamin B12 among Vegetarians: Status, Assessment and Supplementation.

Authors:  Gianluca Rizzo; Antonio Simone Laganà; Agnese Maria Chiara Rapisarda; Gioacchina Maria Grazia La Ferrera; Massimo Buscema; Paola Rossetti; Angela Nigro; Vincenzo Muscia; Gaetano Valenti; Fabrizio Sapia; Giuseppe Sarpietro; Micol Zigarelli; Salvatore Giovanni Vitale
Journal:  Nutrients       Date:  2016-11-29       Impact factor: 5.717

Review 6.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982

7.  A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.

Authors:  Panayiotis Constantinou; Mariella D'Alessandro; Paul Lochhead; Shalaka Samant; W Michael Bisset; Catherine Hauptfleisch; John Dean
Journal:  Mol Syndromol       Date:  2015-10-14
  7 in total

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