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D-bifunctional protein deficiency – a cause of neonatal onset seizures and hypotonia

dc.contributor.authorNascimento, J.
dc.contributor.authorMota, C.
dc.contributor.authorLacerda, L.
dc.contributor.authorPacheco, S.
dc.contributor.authorChorão, R.
dc.contributor.authorMartins, E.
dc.contributor.authorGarrido, C.
dc.date.accessioned2015-02-02T14:12:57Z
dc.date.available2015-02-02T14:12:57Z
dc.date.issued2015
dc.description.abstractBackground Peroxisomal disorders are classified in two major groups: (1) Peroxisome Biogenesis Disorders and (2) single Peroxisomal Enzyme/Transporter Deficiencies. D-bifunctional protein deficiency (DBP; OMIM #261515) included in this last group of rare diseases leads to an impaired peroxisomal beta-oxidation. D-bifunctional protein deficiencies are classified in four types based on the degree of activity of the 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase protein units. Case report/Result The authors present the first portuguese reported type II DBP deficiency patient, whose neonatal clinical picture is indistinguishable from a Zellweger spectrum disease. The clinical features and the neuroimaging findings of polymicrogyria raised suspicion of the diagnosis. After biochemical analysis, DBP deficiency was confirmed with the identification of p.Asn457Tyr (N457Y) mutation, present in homozygosity in HSD17B4 gene. Parents were found to be carriers of the mutated allele, confirming the patient homozygosity status and allowing prenatal diagnosis to future pregnancies. Conclusion D-bifunctional protein deficiency is a rare and severe disease and final diagnosis can only be accomplished after HSD17B4 gene sequencing. Treatment is generally of supportive nature, aimed at improving nutrition and growth, controlling the central nervous system symptoms and limiting the eventual progression of liver disease.por
dc.identifier.citationNascimento J, Mota C, Lacerda L, Pacheco S, Chorão R, Martins E, Garrido C, D-bifunctional protein deficiency – a cause of neonatal onset seizures and hypotonia, Pediatric Neurology (2015), doi: 10.1016/j.pediatrneurol.2015.01.007por
dc.identifier.doi10.1016/j.pediatrneurol.2015.01.007
dc.identifier.issn0887-8994
dc.identifier.urihttp://hdl.handle.net/10400.16/1744
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherElsevierpor
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S0887899415000375por
dc.subjectD-bifunctional protein deficiencypor
dc.subjectneonatal seizurespor
dc.subjectperoxisomepor
dc.subjectpolymicrogyriapor
dc.titleD-bifunctional protein deficiency – a cause of neonatal onset seizures and hypotoniapor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapor
oaire.citation.titlePediatric Neurologypor
oaire.citation.volume2015por
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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