Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Contains fulltext : 80876.pdf (Publisher’s version ) (Closed access) Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Is...
Published in: | Mitochondrion |
---|---|
Main Authors: | , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | unknown |
Published: |
2009
|
Subjects: | |
Online Access: | http://hdl.handle.net/2066/80876 https://doi.org/10.1016/j.mito.2009.08.003 |
id |
ftunivnijmegen:oai:repository.ubn.ru.nl:2066/80876 |
---|---|
record_format |
openpolar |
spelling |
ftunivnijmegen:oai:repository.ubn.ru.nl:2066/80876 2023-12-24T10:16:33+01:00 Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Morava, E. Steuerwald, U. Carrozzo, R. Kluijtmans, L.A.J. Joensen, F. Santer, R. Dionisi-Vici, C. Wevers, R.A. 2009 http://hdl.handle.net/2066/80876 https://doi.org/10.1016/j.mito.2009.08.003 unknown http://hdl.handle.net/2066/80876 doi:10.1016/j.mito.2009.08.003 Mitochondrion, 9, 6, pp. 438-42 DCN 1: Perception and Action DCN 2: Functional Neurogenomics IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism Article / Letter to editor 2009 ftunivnijmegen https://doi.org/10.1016/j.mito.2009.08.003 2023-11-29T23:08:34Z Contains fulltext : 80876.pdf (Publisher’s version ) (Closed access) Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Islands with a homozygous SUCLA2 splice site mutation. Elevated urinary 3-hydroxyisovaleric acid is a novel biochemical feature in patients. Progressive hearing loss, in combination with a characteristic metabolite profile (increased lactate, methylmalonic acid, C4-dicarboxylic carnitine, 3-hydroxyisovaleric acid) should lead the clinician to the correct diagnosis even in patients with only intermittent lactic acidemia. Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients. Article in Journal/Newspaper Faroe Islands Radboud University: DSpace Faroe Islands Mitochondrion 9 6 438 442 |
institution |
Open Polar |
collection |
Radboud University: DSpace |
op_collection_id |
ftunivnijmegen |
language |
unknown |
topic |
DCN 1: Perception and Action DCN 2: Functional Neurogenomics IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism |
spellingShingle |
DCN 1: Perception and Action DCN 2: Functional Neurogenomics IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism Morava, E. Steuerwald, U. Carrozzo, R. Kluijtmans, L.A.J. Joensen, F. Santer, R. Dionisi-Vici, C. Wevers, R.A. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. |
topic_facet |
DCN 1: Perception and Action DCN 2: Functional Neurogenomics IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 8: Mitochondrial medicine NCMLS 4: Energy and redox metabolism |
description |
Contains fulltext : 80876.pdf (Publisher’s version ) (Closed access) Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Islands with a homozygous SUCLA2 splice site mutation. Elevated urinary 3-hydroxyisovaleric acid is a novel biochemical feature in patients. Progressive hearing loss, in combination with a characteristic metabolite profile (increased lactate, methylmalonic acid, C4-dicarboxylic carnitine, 3-hydroxyisovaleric acid) should lead the clinician to the correct diagnosis even in patients with only intermittent lactic acidemia. Direct SUCLA2 sequence analysis is suggested instead of an invasive muscle biopsy to obtain the diagnosis. Nutritional intervention may be considered in SUCLA2 patients. |
format |
Article in Journal/Newspaper |
author |
Morava, E. Steuerwald, U. Carrozzo, R. Kluijtmans, L.A.J. Joensen, F. Santer, R. Dionisi-Vici, C. Wevers, R.A. |
author_facet |
Morava, E. Steuerwald, U. Carrozzo, R. Kluijtmans, L.A.J. Joensen, F. Santer, R. Dionisi-Vici, C. Wevers, R.A. |
author_sort |
Morava, E. |
title |
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. |
title_short |
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. |
title_full |
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. |
title_fullStr |
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. |
title_full_unstemmed |
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. |
title_sort |
dystonia and deafness due to sucla2 defect; clinical course and biochemical markers in 16 children. |
publishDate |
2009 |
url |
http://hdl.handle.net/2066/80876 https://doi.org/10.1016/j.mito.2009.08.003 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_source |
Mitochondrion, 9, 6, pp. 438-42 |
op_relation |
http://hdl.handle.net/2066/80876 doi:10.1016/j.mito.2009.08.003 |
op_doi |
https://doi.org/10.1016/j.mito.2009.08.003 |
container_title |
Mitochondrion |
container_volume |
9 |
container_issue |
6 |
container_start_page |
438 |
op_container_end_page |
442 |
_version_ |
1786204175596519424 |