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.

Siu, Wai-Kwan; Mak, Chloe Miu; Siu, Sylvia Luen-Yee; Siu, Tak-Shing; Pang, Chun-Yin; Lam, Ching-Wan; Kwong, Ngan-Shan; Chan, Albert Yan-Wo

Siu, Wai-Kwan; Mak, Chloe Miu; Siu, Sylvia Luen-Yee; Siu, Tak-Shing; Pang, Chun-Yin; Lam, Ching-Wan; Kwong, Ngan-Shan; Chan, Albert Yan-Wo.

Affiliation

Siu WK; Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong, China.

Diagn Mol Pathol ; 21(3): 184-7, 2012 Sep.

Article in En | MEDLINE | ID: mdl-22847164

Subject(s)

Acyl-CoA Dehydrogenase, Long-Chain/genetics; Lipid Metabolism, Inborn Errors/diagnosis; Mitochondrial Diseases/diagnosis; Muscular Diseases/diagnosis; Neonatal Screening; Acyl-CoA Dehydrogenase, Long-Chain/blood; Acyl-CoA Dehydrogenase, Long-Chain/deficiency; Congenital Bone Marrow Failure Syndromes; Fatal Outcome; Heterozygote; Hong Kong; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors/genetics; Lipid Metabolism, Inborn Errors/prevention & control; Male; Mitochondrial Diseases/genetics; Mitochondrial Diseases/prevention & control; Muscular Diseases/genetics; Muscular Diseases/prevention & control; Mutation; RNA Splicing/genetics; Sequence Analysis, DNA; Siblings; Tandem Mass Spectrometry

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Full text: 1 Database: MEDLINE Main subject: Neonatal Screening / Mitochondrial Diseases / Acyl-CoA Dehydrogenase, Long-Chain / Lipid Metabolism, Inborn Errors / Muscular Diseases Type of study: Diagnostic_studies / Screening_studies Limits: Humans / Infant / Male / Newborn Country/Region as subject: Asia Language: En Year: 2012 Type: Article

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