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Article: 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

TitleMolecular 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
Authors
Issue Date2012
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com
Citation
Diagnostic Molecular Pathology, 2012, v. 21 n. 3, p. 184-187 How to Cite?
AbstractVery 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.
Persistent Identifierhttp://hdl.handle.net/10722/164853
ISSN
2015 Impact Factor: 1.474
2015 SCImago Journal Rankings: 0.887
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorSiu, WKen_US
dc.contributor.authorMak, CMen_US
dc.contributor.authorSiu, SLYen_US
dc.contributor.authorSiu, TSen_US
dc.contributor.authorPang, CYen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorKwong, NSen_US
dc.contributor.authorChan, AYWen_US
dc.date.accessioned2012-09-20T08:11:00Z-
dc.date.available2012-09-20T08:11:00Z-
dc.date.issued2012en_US
dc.identifier.citationDiagnostic Molecular Pathology, 2012, v. 21 n. 3, p. 184-187en_US
dc.identifier.issn1052-9551-
dc.identifier.urihttp://hdl.handle.net/10722/164853-
dc.description.abstractVery 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.-
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.molecularpathology.com-
dc.relation.ispartofDiagnostic Molecular Pathologyen_US
dc.subject.meshAcyl-CoA Dehydrogenase, Long-Chain - blood - deficiency - genetics-
dc.subject.meshLipid Metabolism, Inborn Errors - diagnosis - genetics - prevention and control-
dc.subject.meshMitochondrial Diseases - diagnosis - genetics - prevention and control-
dc.subject.meshMuscular Diseases - diagnosis - genetics - prevention and control-
dc.subject.meshNeonatal Screening-
dc.titleMolecular 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 screeningen_US
dc.typeArticleen_US
dc.identifier.emailMak, CM: makm@ha.org.hken_US
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1097/PDM.0b013e31825554d0-
dc.identifier.pmid22847164-
dc.identifier.scopuseid_2-s2.0-84865751204-
dc.identifier.hkuros208497en_US
dc.identifier.hkuros222702-
dc.identifier.volume21-
dc.identifier.issue3-
dc.identifier.spage184-
dc.identifier.epage187-
dc.identifier.isiWOS:000308214400010-
dc.publisher.placeUnited States-

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