Literature DB >> 3725502

New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria.

D S Rosenblatt, R Laframboise, J Pichette, P Langevin, B A Cooper, T Costa.   

Abstract

An infant with vitamin B12-responsive methylmalonic aciduria and no homocystinuria or megaloblastic anemia presented with stomatitis, glossitis, convulsions, and developmental delay. Cultured fibroblasts showed defective incorporation of both [14C]5-methyltetrahydrofolate and [14C]propionate into protein by whole cells and a decrease of methionine synthase activity in cell extracts. Despite excessive incorporation of [57Co]cyano-B12 by fibroblasts from the patient, free vitamin B12 was unable to efflux from lysosomes, and, therefore, synthesis of both adenosyl-B12 and methyl-B12 was impaired.

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Year:  1986        PMID： 3725502

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  7 in total

1.  Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.

Authors:  R Cerone; M C Schiaffino; U Caruso; S Lupino; R Gatti
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  Cobalamin C deficiency in an adolescent with altered mental status and anorexia.

Authors:  Maria H Rahmandar; Amanda Bawcom; Mary E Romano; Rizwan Hamid
Journal:  Pediatrics       Date:  2014-11-03       Impact factor: 7.124

3.  Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry.

Authors:  S P Stabler; P D Marcell; E R Podell; R H Allen; D G Savage; J Lindenbaum
Journal:  J Clin Invest       Date:  1988-02       Impact factor: 14.808

4.  Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine.

Authors:  B Lemieux; C Auray-Blais; R Giguère; D Shapcott; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

5.  Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

Authors:  D Watkins; D S Rosenblatt
Journal:  J Clin Invest       Date:  1988-06       Impact factor: 14.808

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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