Document Detail

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.
MedLine Citation:
PMID:  16737882     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY DESIGN: A nationwide, retrospective analysis of clinical presentation and follow-up in 155 Dutch patients with MCAD deficiency. RESULTS: Most patients presented between 3 months and 5.1 years of age; 13% had symptoms as neonates not exclusively related to breast-feeding. An acute presentation before the diagnosis was made resulted in a mortality of 22% (25/114), whereas 21% (19/89) developed disabilities after the diagnosis. On follow-up, a total of 44 patients reported fatigue (35%; 28/80), muscle pain (31%; 25/80), and/or reduced exercise tolerance (39%; 31/80). Cardiac evaluation in 11 adult patients revealed no abnormalities in cardiac function explaining these complaints. Children with MCAD deficiency readily become overweight. CONCLUSIONS: Mortality and morbidity were high in undiagnosed children with MCAD deficiency; establishment of the diagnosis significantly improves outcome. Strikingly, after the diagnosis and initiation of treatment, overweight and chronic complaints (fatigue, muscle pain, and reduced exercise tolerance) were prominent.
Terry G J Derks; Dirk-Jan Reijngoud; Hans R Waterham; Willem-Jan M Gerver; Maarten P van den Berg; Pieter J J Sauer; G Peter A Smit
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  148     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-06-01     Completed Date:  2006-06-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  665-670     Citation Subset:  AIM; IM    
Division and Laboratory of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
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MeSH Terms
Acyl-CoA Dehydrogenase / deficiency*,  genetics
Child, Preschool
Cohort Studies
Disease Progression
Infant, Newborn
Metabolism, Inborn Errors / complications*,  diagnosis*,  genetics
Middle Aged
Mutation / genetics
Retrospective Studies
Severity of Illness Index
Reg. No./Substance:
EC Dehydrogenase

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