Biotidinase deficiency accompanied by diffuse demyelination and cerebral atrophy

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dc.contributor.authorOkur, Mesut
dc.contributor.authorBektaş, Mehmet Selçuk
dc.contributor.authorTemel, Hayrettin
dc.contributor.authorÇaksen, Hüseyin
dc.contributor.authorAçıkgöz, Mehmet
dc.contributor.authorSal, Ertan
dc.date.accessioned2020-04-30T13:32:10Z
dc.date.available2020-04-30T13:32:10Z
dc.date.issued2012
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractBiotinidase deficiency is an inherited disorder which has autosomal recessive pattern; it occurs in approximately 1 in 60,000 live births. Usually it manifests seborrheic dermatitis, alopecia, ataxia, convulsions, hypotonia, developmental delay, hearing loss, chronic lactic acidosis and immune deficiency. Its diagnosis is made by the measurement of serum biotinidase enzyme activity and determination of the enzyme. Herein presented that a two and half-month-old boy with biotinidase enzyme deficiency which had cerebral atrophy without any skin signs. In the patients presented with refractory convulsions with unexplainable etiology without any skin lesions, as in our patient, biotinidase enzyme deficiency should be considered and the treatment should be established in early period to prevent many complications that may develop.en_US
dc.identifier.endpage200en_US
dc.identifier.issn1304-3889
dc.identifier.issue3en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage197en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12684/131
dc.identifier.volume9en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.relation.ispartofEuropean Journal of General Medicineen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBiotidinase deficiency; Cerebral atrophy; Child; Demyelinationen_US
dc.titleBiotidinase deficiency accompanied by diffuse demyelination and cerebral atrophyen_US
dc.typeArticleen_US

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