edoc

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism

Miousse, Isabelle R. and Watkins, David and Coelho, David and Rupar, Tony and Crombez, Eric A. and Vilain, Eric and Bernstein, Jonathan A. and Cowan, Tina and Lee-Messer, Christopher and Enns, Gregory M. and Fowler, Brian and Rosenblatt, David S.. (2009) Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. Journal of Pediatrics, 154 (4). pp. 551-556.

Full text not available from this repository.

Official URL: http://edoc.unibas.ch/dok/A6005777

Downloads: Statistics Overview

Abstract

OBJECTIVES: To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin metabolism caused by mutations in the MMADHC gene that can result in isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria and methylmalonic aciduria. STUDY DESIGN: Patient clinical records were reviewed. Biochemical and somatic cell genetic studies were performed on cultured fibroblasts. Sequence analysis of the MMADHC gene was performed on patient DNA. RESULTS: Patient 1 presented with isolated methylmalonic aciduria, patient 3 with isolated homocystinuria, and patient 2 with combined methylmalonic aciduria and homocystinuria. Studies of cultured fibroblasts confirmed decreased synthesis of adenosylcobalamin in patient 1, decreased synthesis of methylcobalamin in patient 3, and decreased synthesis of both cobalamin derivatives in patient 2. The diagnosis of cblD was established in each patient by complementation analysis. Mutations in the MMADHC gene were identified in all patients. CONCLUSIONS: The results emphasize the heterogeneous clinical, cellular and molecular phenotype of the cblD disorder. The results of molecular analysis of the MMADHC gene are consistent with the hypothesis that mutations affecting the N terminus of the MMADHC protein are associated with methylmalonic aciduria, and mutations affecting the C terminus are associated with homocystinuria.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrie (Frey)
UniBasel Contributors:Fowler, Brian
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Mosby
ISSN:0022-3476
e-ISSN:1097-6833
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:29 Nov 2017 07:57
Deposited On:26 Apr 2013 06:59

Repository Staff Only: item control page