| |  Online-Ressource |
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| Verfasst von: | Rosenbohm, Angela [VerfasserIn]  |
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| | Süßmuth, Sigurd [VerfasserIn] |
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| | Kassubek, Jan Rainer [VerfasserIn] |
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| | Müller, Hans-Peter [VerfasserIn] |
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| | Pontes, Christina [VerfasserIn] |
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| | Abicht, Angela [VerfasserIn] |
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| | Bulst, Stefanie [VerfasserIn] |
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| | Ludolph, Albert C. [VerfasserIn] |
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| | Pinkhardt, Elmar Hans [VerfasserIn] |
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| Titel: | Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II |
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| Verf.angabe: | Angela Rosenbohm, Sigurd D. Süssmuth, Jan Kassubek, Hans-Peter Müller, Christina Pontes, Angela Abicht, Stefanie Bulst, Albert C. Ludolph, and Elmar Pinkhardt |
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| Jahr: | 2014 |
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| Jahr des Originals: | 2013 |
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| Umfang: | 5 S. |
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| Teil: | volume:49 |
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| | year:2014 |
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| | number:3 |
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| | pages:446-450 |
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| | extent:5 |
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| Fussnoten: | First published: 28 July 2013 ; Gesehen am 21.09.2020 |
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| Titel Quelle: | Enthalten in: Muscle & nerve |
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| Ort Quelle: | New York, NY [u.a.] : Wiley, 1978 |
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| Jahr Quelle: | 2014 |
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| Band/Heft Quelle: | 49(2014), 3, Seite 446-450 |
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| ISSN Quelle: | 1097-4598 |
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| Abstract: | Introduction: Glutaric aciduria type II (GAII) is a rare autosomal recessive disorder with variable clinical course. The disorder is caused by a defect in the mitochondrial electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase (ETFDH). Methods: We performed clinical characterization, brain and whole body MRI, muscle histopathology, and genetic analysis of the ETFDH gene in a young woman. Results: She presented with rhabdomyolysis and severe quadriparesis. We identified a novel homozygous missense mutation in ETFDH (c.1544G>T, p.Ser515Ile). Body fat MRI revealed a large amount of subcutaneous fat but no increase in visceral fat despite steatosis of liver and muscle. Diffusion tensor imaging (DTI) of cerebral MRI revealed reduced directionality of the white matter tracts. Histopathological findings showed lipid storage myopathy. Conclusions: In this study, we highlight diagnostic clues and body fat MRI in this rare metabolic disorder. Muscle Nerve 49:446-450, 2013 |
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| DOI: | doi:10.1002/mus.23979 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1002/mus.23979 |
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| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/mus.23979 |
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| | DOI: https://doi.org/10.1002/mus.23979 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | ETFDH |
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| | glutaric aciduria II |
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| | MRI |
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| | multiple acyl-coa-dehydrogenase deficiency |
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| K10plus-PPN: | 1733462694 |
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| Verknüpfungen: | → Zeitschrift |
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Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II / Rosenbohm, Angela [VerfasserIn]; 2014 (Online-Ressource)
