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Maternal Glutaric aciduria type I and newborn screening

2019-09Conference object Open access
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dc.contributor.authorRocha, Hugo
dc.contributor.authorGarcia, Paula
dc.contributor.authorMartins, Esmeralda
dc.contributor.authorRodrigues, Esmeralda
dc.contributor.authorGaspar, Ana
dc.contributor.authorMarcão, Ana
dc.contributor.authorSousa, Carmen
dc.contributor.authorFonseca, Helena
dc.contributor.authorLopes, Lurdes
dc.contributor.authorCarvalho, Ivone
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2020-05-25T14:25:07Z
dc.date.available2020-05-25T14:25:07Z
dc.date.issued2019-09
dc.description.abstractIntroduction: Expanded Newborn Screening (NBS) programs based on MS/MS, result in a massive increase of screened metabolic disorders and detected patients. Alongside with the detection of classical forms of screened metabolic disorders, milder forms (many whose existence was unknown until now) are being detected, representing major challenges in respect to follow up protocols. Disease spectrum of screened disorders is being stretched, through the detection of undiagnosed mothers through their son’s newborn screening results. In these cases, abnormal screening results are due to maternal rather to neonatal disease. The most common examples are newborns from mothers 3-mthylcroyonyl-CoA-carboxylase deficiency (with newborns usually presenting elevated 3-hydroxy-isovalerylcarnitine and/or low free carnitine) and from mothers with Primary Carnitine Deficiency (with newborns usually presenting low free carnitine). More rarely low free carnitne values in the newborns have been associated to other maternal conditions, namely glutaric aciduria type I. Glutaric aciduria type I (GAI) (MIM# 231670) is an autosomal recessive inherited metabolic caused by a defect of the enzyme glutaryl-CoA dehydrogenase. Clinically GAI, a neurometabolic disorder firstly described by Goodman is characterised by a progressive neurodegeneration that typically manifests acutely in infants during a intercorrent illness. The well known phenotypic presentations are fronto-temporal brain atrophy with macrocephaly and acute encephalopathic episodes with striatal necrosis followed by dystonic-dyskinetic movement disorder.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6793
dc.language.isoengpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectGlutaric Aciduria Type Ipt_PT
dc.subjectMaternal Glutaric Aciduria Type Ipt_PT
dc.subjectNewbornspt_PT
dc.subjectPortuguese Newborn Screening Programpt_PT
dc.subjectNewborn Screeningpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMaternal Glutaric aciduria type I and newborn screeningpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceRotterdam, The Netherlandspt_PT
oaire.citation.titleAnnual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM 2019), 3–6 September 2019pt_PT
person.familyNameRocha
person.givenNameHugo
person.identifier.ciencia-id331F-6236-B34F
person.identifier.orcid0000-0001-5447-615X
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublicationafde7294-4a54-4231-a87b-b7ccf2b7c9bf
relation.isAuthorOfPublication.latestForDiscoveryafde7294-4a54-4231-a87b-b7ccf2b7c9bf

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