| Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency. | |
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MedLine Citation:
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PMID: 20389114 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Short-chain acylCoA dehydrogenase (SCAD) deficiency is a rare mitochondrial disorder involving the beta-oxidation of fatty acylCoA compounds in chains of 4-6 carbons. Unlike other mitochondrial disorders, cases involving autoimmune diseases have not been described. We report a 15-year-old boy with SCAD deficiency who suffered from pernicious anaemia, vitiligo, scleroatrophic lichen and autoimmune thyroiditis. As has been reported in other mitochondrial disorders, we hypothesised that autoimmune diseases are also present in SCAD deficiency. Furthermore, we discuss the possible pathogenetic relationship between these diseases. |
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Authors:
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Stefano Stagi; Serena Gasperini; Cristina Manoni; Antonella Greco; Silvia Funghini; Alice Donati |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-04-14 |
Journal Detail:
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Title: Hormone research in pædiatrics Volume: 73 ISSN: 1663-2826 ISO Abbreviation: Horm Res Paediatr Publication Date: 2010 |
Date Detail:
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Created Date: 2010-04-14 Completed Date: 2010-07-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101525157 Medline TA: Horm Res Paediatr Country: Switzerland |
Other Details:
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Languages: eng Pagination: 409-13 Citation Subset: IM |
Copyright Information:
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Copyright 2010 S. Karger AG, Basel. |
Affiliation:
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Paediatric Endocrinology Unit, University of Florence, A. Meyer Children's Hospital, Florence, Italy. stefano.stagi@yahoo.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Anemia, Pernicious / complications*, genetics Autoimmune Diseases of the Nervous System / genetics* Butyryl-CoA Dehydrogenase / deficiency* Humans Lichen Sclerosus et Atrophicus / complications*, genetics Male Thyroiditis, Autoimmune / complications*, genetics Vitiligo / complications*, genetics |
| Chemical | |
Reg. No./Substance:
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EC 1.3.99.2/Butyryl-CoA Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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