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dc.contributor.authorYılmaz, Özlem
dc.contributor.authorKitchen, Steve
dc.contributor.authorPinto, Alex
dc.contributor.authorDaly, Anne
dc.contributor.authorGerrard, Adam
dc.contributor.authorHoban, Rachel
dc.contributor.authorSanta, Saikat
dc.contributor.authorSreekantam, Srividya
dc.contributor.authorFrost, Kathryn
dc.contributor.authorPigott, Anna
dc.contributor.authorMacDonald, Anita
dc.date.accessioned2019-12-19T06:13:35Z
dc.date.available2019-12-19T06:13:35Z
dc.date.issued2018
dc.identifier.issn0212-1611
dc.identifier.urihttps://doi.org/10.20960/nh.1329
dc.identifier.urihttp://hdl.handle.net/11655/20721
dc.description.abstractIntroduction: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in the literature, and optimal dietary management and long term outcome are not fully understood. Case report: We report a 2 year old girl with HMG-CoA-lyase deficiency who had limited fasting tolerance on a low protein diet, with several recurrent hospital admissions with severe hypoketotic hypoglycaemia and metabolic acidosis. We also review the dietary management and outcome of other reported cases in the literature. Discussion: In order to define optimal dietary treatment, it is important to collect higher numbers of case studies with detailed dietary manage ment, fasting times and outcome.
dc.language.isoen
dc.publisherAran Ediciones, S L
dc.relation.isversionof10.20960/nh.1329
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectNutrition & Dietetics
dc.title3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency: A Case Report And Literature Review
dc.typeinfo:eu-repo/semantics/review
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalNutricion Hospitalaria
dc.contributor.departmentBeslenme ve Diyetetik
dc.identifier.volume35
dc.identifier.issue1
dc.identifier.startpage237
dc.identifier.endpage244
dc.description.indexWoS


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