Document Detail

Newborn screening for MCAD deficiency: experience of the first three years in British Columbia, Canada.
MedLine Citation:
PMID:  18767270     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of MCAD and presymptomatic treatment can potentially reduce morbidity and mortality.
OBJECTIVES: To evaluate incidence, clinical outcome, biochemical and molecular phenotype of MCAD cases detected in the first three years of newborn screening in British Columbia (BC).
METHODS AND RESULTS: Medium chain length acylcarnitines, octanoylcarnitine (C8) and decanoylcarnitine (C10), were measured on newborn screening blood spot cards. Out of 121,000 live births, 17 newborns had C8 values above the screening cut-off of 0.38 umol/L. Ten newborns had elevated C8 on repeat cards and were investigated further. Both C8 and C8/C10 ratios remained abnormal in all confirmed MCAD cases. Positive predictive value of screening was 58% with no false negative results. Seven patients were homozygous for the common c.985A > G MCAD mutation and three others were compound heterozygous for the c.985A > G and a second mutation. Two novel mutations were identified (c.260T > C and c.382T > A). The estimated incidence of MCAD was approximately 1:12,000 live births. Upon frequent feeding and carnitine supplementation, none of the patients had metabolic crises or adverse outcomes.
CONCLUSION: Frequency of MCAD in BC is comparable to reports from other newborn screening programs. Persistence of elevated C8 levels and C8/C10 ratios in confirmed MCAD cases suggest that these are sensitive markers for newborn screening. Early detection and treatment have successfully prevented adverse health outcomes in patients with MCAD.
Gabriella A Horvath; A G F Davidson; Sylvia G Stockler-Ipsiroglu; Yolanda P Lillquist; Paula J Waters; S Olpin; B S Andresen; Jan Palaty; Judie Nelson; Hilary Vallance
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Canadian journal of public health = Revue canadienne de santé publique     Volume:  99     ISSN:  0008-4263     ISO Abbreviation:  Can J Public Health     Publication Date:    2008 Jul-Aug
Date Detail:
Created Date:  2008-09-04     Completed Date:  2008-10-24     Revised Date:  2013-06-05    
Medline Journal Info:
Nlm Unique ID:  0372714     Medline TA:  Can J Public Health     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  276-80     Citation Subset:  IM    
Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, BC.
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MeSH Terms
Acyl-CoA Dehydrogenase / deficiency*,  genetics
British Columbia / epidemiology
Death, Sudden, Cardiac / epidemiology,  prevention & control
Health Status Indicators
Infant, Newborn
Lipid Metabolism, Inborn Errors / diagnosis,  drug therapy,  epidemiology,  genetics
Neonatal Screening*
Time Factors
Treatment Outcome
Reg. No./Substance:
EC Dehydrogenase

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

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