Document Detail

Autoimmune Thyroiditis, Pernicious Anaemia, Vitiligo and Scleroatrophic Lichen in a boy with short-chain acylCoA dehydrogenase deficiency.
MedLine Citation:
PMID:  20389114     Owner:  NLM     Status:  MEDLINE    
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.
Stefano Stagi; Serena Gasperini; Cristina Manoni; Antonella Greco; Silvia Funghini; Alice Donati
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-04-14
Journal Detail:
Title:  Hormone research in pædiatrics     Volume:  73     ISSN:  1663-2826     ISO Abbreviation:  Horm Res Paediatr     Publication Date:  2010  
Date Detail:
Created Date:  2010-04-14     Completed Date:  2010-07-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101525157     Medline TA:  Horm Res Paediatr     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  409-13     Citation Subset:  IM    
Copyright Information:
Copyright 2010 S. Karger AG, Basel.
Paediatric Endocrinology Unit, University of Florence, A. Meyer Children's Hospital, Florence, Italy.
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MeSH Terms
Anemia, Pernicious / complications*,  genetics
Autoimmune Diseases of the Nervous System / genetics*
Butyryl-CoA Dehydrogenase / deficiency*
Lichen Sclerosus et Atrophicus / complications*,  genetics
Thyroiditis, Autoimmune / complications*,  genetics
Vitiligo / complications*,  genetics
Reg. No./Substance:
EC Dehydrogenase

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