Document Detail

Molecular Diagnosis for a Fatal Case of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Hong Kong Chinese With a Novel Mutation: A Preventable Death by Newborn Screening.
MedLine Citation:
PMID:  22847164     Owner:  NLM     Status:  Publisher    
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is one of the most common fatty acid oxidation defects that cause sudden unexpected deaths in infants. The death attributed to VLCAD deficiency can be prevented by early diagnosis with expanded newborn screening using tandem mass spectrometry. A favorable outcome can be achieved with early diagnosis and prompt treatment. However, such newborn screening has not yet been available in Hong Kong. We report a 2-month-old boy who succumbed 5 hours after admission with the diagnosis of VLCAD deficiency confirmed by genetic analysis performed after death. The patient was compound heterozygous for a novel splicing mutation ACADVL NM_000018.2:c.277+2T>G; NC_000017.10:g.7123997T>G and a known disease-causing mutation ACADVL NM_000018.2:c.388_390del; NP_000009.1: p.Glu130del. Family screening was performed for at-risk siblings. The rapid downhill course of the patient clearly illustrates the need of newborn screening for early diagnosis. Our patient was asymptomatic before metabolic decompensation. However, once metabolic decompensation occurred, rapid deterioration and death followed, which obviated the opportunity to diagnose and treat. The only way to save these patients' lives and improve their outcome is early diagnosis and appropriate treatment. Therefore, we strongly urge the implementation of newborn screening using tandem mass spectrometry for VLCAD deficiency and other highly treatable inborn errors of metabolism in Hong Kong.
Wai-Kwan Siu; Chloe Miu Mak; Sylvia Luen-Yee Siu; Tak-Shing Siu; Chun-Yin Pang; Ching-Wan Lam; Ngan-Shan Kwong; Albert Yan-Wo Chan
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-7-27
Journal Detail:
Title:  Diagnostic molecular pathology : the American journal of surgical pathology, part B     Volume:  -     ISSN:  1533-4066     ISO Abbreviation:  -     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-7-31     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9204924     Medline TA:  Diagn Mol Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Departments of *Clinical Pathology ‡Paediatrics & Adolescent Medicine, Tuen Mun Hospital †Kowloon West Cluster Laboratory Genetic Service, Department of Pathology, Princess Margaret Hospital §Division of Clinical Biochemistry, Queen Mary Hospital ∥Department of Pathology, Li Ka Shing Faculty of Medicine, Queen Mary Hospital, the University of Hong Kong, Hong Kong, China.
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