Document Detail


Fumarate hydratase deficiency in monozygotic twins.
MedLine Citation:
PMID:  16876016     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Monozygotic twins with fumarate hydratase deficiency presenting with profound hypotonia and developmental delay are reported. This rare organic aciduria has been previously described in random case reports, although, to our knowledge, these are the first reported monozygotic twins and gene testing revealed a novel mutation in both. During their course, one of the twins also developed acute pancreatitis, which has not been previously described in association with this particular organic aciduria.
Authors:
Tonya M Phillips; James B Gibson; Dale A Ellison
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  35     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-07-31     Completed Date:  2006-10-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  150-3     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Division of Neurology, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, Arkansas, USA. tonya.phillips@cchmc.org
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Metabolism, Inborn Errors / genetics*,  pathology
Brain / pathology
Diseases in Twins / genetics*,  pathology
Female
Fumarate Hydratase / deficiency*
Humans
Infant
Mutation / genetics*
Twins, Monozygotic*
Chemical
Reg. No./Substance:
EC 4.2.1.2/Fumarate Hydratase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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