Publication:
Propionic acidemia: Case report

dc.contributor.buuauthorSAĞLAM, HALİL
dc.contributor.buuauthorKamber, Kadri
dc.contributor.buuauthorERDÖL, ŞAHİN
dc.contributor.buuauthorErdöl, Şahin
dc.contributor.buuauthorKaralı, Yasin
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.
dc.contributor.orcid0000-0003-0710-5422
dc.contributor.orcid0000-0002-6598-8262
dc.contributor.researcheridC-7392-2019
dc.contributor.researcheridGLN-8241-2022
dc.date.accessioned2024-10-18T11:41:11Z
dc.date.available2024-10-18T11:41:11Z
dc.date.issued2007-06-01
dc.description.abstractA three and a half-month-old boy was referred to us to be investigated due to pancytopenia. He had vomiting, lethargy and failure to thrive. It was reported that seventy two hours after an uneventful labor, he developed feeding difficulty, vomiting, hypotonia and lethargy; and he was hospitalized with an initial diagnosis of neonatal sepsis for 15 days. There was second degree consanguinity between his parents.On physical examination; he was hypotonic, lethargic, and tachypneic with a slight hepatomegaly of 2 cm. Neonatal reflexes were absent. During follow-up, he developed persistent myoclonic convulsions and metabolic acidosis. Quantitative plasma and cerebrospinal fluid glycine levels were increased. On tandem mass spectrometric study, C3-propionyl carnitin level was increased. Urine organic acid analysis revealed increased 3-OH propionic acid, 3-OH butyric acid, and propionylglycine levels. He was diagnosed as propionic acidemia and a protein restricted diet with oral L-carnitine and biotin supplementations were started.In our country, where the prevalence of consanguineous marriages is very high, inborn errors of metabolism should be strongly considered in all of those full term neonates and children who develop hypotonia, convulsions, lethargy and failure to thrive after an uneventful labor, as well as in those developing signs and symptoms of neonatal sepsis without any risk factors both in the baby and in the mother.
dc.identifier.endpage40
dc.identifier.issn1304-9054
dc.identifier.issue1
dc.identifier.startpage38
dc.identifier.urihttps://hdl.handle.net/11452/46728
dc.identifier.volume5
dc.identifier.wos000422248300008
dc.indexed.wosWOS.ESCI
dc.language.isoen
dc.publisherGalenos Yayincilik
dc.relation.journalGuncel Pediatri-journal Of Current Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectPropionic acidemia
dc.subjectMetabolic acidosis
dc.subjectMyoclonic convulsions
dc.subjectPancytopenia
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectPediatrics
dc.titlePropionic acidemia: Case report
dc.typeArticle
dspace.entity.typePublication
relation.isAuthorOfPublication20f0e0ab-299b-4991-a5bc-4c6021265d5e
relation.isAuthorOfPublication.latestForDiscovery20f0e0ab-299b-4991-a5bc-4c6021265d5e

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