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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
3-Methylglutaconic aciduria - Lessons from 50 genes and 977 patients
Journal of Inherited Metabolic Disease, Volume 36, No. 6, Year 2013
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Description
Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase deficiency (mutations in AUH), it derives from leucine degradation. In all other disorders with 3-methylglutaconic aciduria the origin is unknown, yet mitochondrial dysfunction is thought to be the common denominator. We investigate the biochemical, clinical and genetic data of 388 patients referred to our centre under suspicion of a metabolic disorder showing 3-methylglutaconic aciduria in routine metabolic screening. Furthermore, we investigate 591 patients with 50 different, genetically proven, mitochondrial disorders for the presence of 3-methylglutaconic aciduria. Three percent of all urine samples of the patients referred showed 3-methylglutaconic aciduria, often in correlation with disorders not reported earlier in association with 3-methylglutaconic aciduria (e.g. organic acidurias, urea cycle disorders, haematological and neuromuscular disorders). In the patient cohort with genetically proven mitochondrial disorders 11 % presented 3-methylglutaconic aciduria. It was more frequently seen in ATPase related disorders, with mitochondrial DNA depletion or deletion, but not in patients with single respiratory chain complex deficiencies. Besides, it was a consistent feature of patients with mutations in TAZ, SERAC1, OPA3, DNAJC19 and TMEM70 accounting for mitochondrial membrane related pathology. 3-methylglutaconic aciduria is found quite frequently in patients suspected of a metabolic disorder, and mitochondrial dysfunction is indeed a common denominator. It is only a discriminative feature of patients with mutations in AUH, TAZ, SERAC1, OPA3, DNAJC19 TMEM70. These conditions should therefore be referred to as inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature. © 2013 SSIEM and Springer Science+Business Media Dordrecht.
Authors & Co-Authors
Wortmann, Saskia Brigitte
Netherlands, Nijmegen
Radboud University Medical Center
Kluijtmans, Leo
Netherlands, Nijmegen
Radboud University Medical Center
Rodenburg, Richard J.T.
Netherlands, Nijmegen
Radboud University Medical Center
Sass, Jõrn Oliver
Switzerland, Zurich
Kinderspital Zürich
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Nouws, Jessica
Netherlands, Nijmegen
Radboud University Medical Center
Van Kaauwen, Edwin P.
Netherlands, Nijmegen
Radboud University Medical Center
Kleefstra, Tjitske
Netherlands, Nijmegen
Radboud University Medical Center
Tranebjaerg, Lisbeth
Denmark, Copenhagen
Københavns Universitet
Denmark, Copenhagen
Bispebjerg Hospital
de Vries, Maaike C.
Netherlands, Nijmegen
Radboud University Medical Center
Isohanni, Pirjo
Finland, Helsinki
Helsingin Yliopisto
Finland, Helsinki
Helsinki University Hospital
Walter, Katharina
Germany, Aachen
Uniklinik Rwth Aachen
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Smuts, Izelle
South Africa, Pretoria
University of Pretoria
Reinecke, Carolus J.
South Africa, Potchefstroom
North-west University
Van Der Westhuizen, F. H.
South Africa, Potchefstroom
North-west University
Thorburn, David Ross
Australia, Melbourne
Royal Children's Hospital, Melbourne
Smeitink, Jan A.M.
Netherlands, Nijmegen
Radboud University Medical Center
Morava, Éva
Netherlands, Nijmegen
Radboud University Medical Center
Wevers, Ron Allan
Netherlands, Nijmegen
Radboud University Medical Center
Statistics
Citations: 77
Authors: 19
Affiliations: 13
Identifiers
Doi:
10.1007/s10545-012-9579-6
ISSN:
01418955
e-ISSN:
15732665
Research Areas
Genetics And Genomics
Health System And Policy
Noncommunicable Diseases
Study Design
Cohort Study