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dc.contributor.authorDemir, F
dc.contributor.authorCan, G
dc.contributor.authorDemirkol, M
dc.contributor.authorGokcay, Gülden Fatma
dc.contributor.authorInce, Z
dc.contributor.authorBaykal, T
dc.contributor.authorDantas, MF
dc.contributor.authorFowler, B
dc.contributor.authorBaumgartner, MR
dc.date.accessioned2021-03-04T11:55:36Z
dc.date.available2021-03-04T11:55:36Z
dc.date.issued2005
dc.identifier.citationBaykal T., Gokcay G. F. , Ince Z., Dantas M., Fowler B., Baumgartner M., Demir F., Can G., Demirkol M., "Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.", Journal of inherited metabolic disease, cilt.28, sa.2, ss.229-33, 2005
dc.identifier.issn0141-8955
dc.identifier.otherav_74c8fb3e-453c-45a6-a250-9c89504ab810
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/80265
dc.identifier.urihttps://doi.org/10.1007/s10545-005-4559-8
dc.description.abstractA patient with a severe neonatal variant of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is reported. The first child of healthy consanguineous Turkish parents presented on the second day of life with dehydration, cyanosis, no sucking, generalized muscular hypotonia, encephalopathy, respiratory depression requiring mechanic ventilation, macrocephaly, severe acidosis and hypoglycaemia. Elevated C-5-OH-carnitine in dried blood spot by tandem MS and elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine suggested MCC deficiency, confirmed by enzyme analysis in cultured fibroblasts. Cerebral ultrasonography and cranial CT findings revealed progressive changes such as disseminated encephalomalacia, cystic changes, ventricular dilatation and cerebral atrophy. Treatment with high-dose biotin and protein-restricted diet was ineffective and the patient died at the age of 33 days with progressive neurological deterioration. Mutation analysis revealed a homozygous mutation in the splice acceptor site of intron 15 in the MCC β-subunit. Early-onset severe necrotizing encephalopathy should be included in the differential diagnosis of isolated MCC deficiency.
dc.language.isoeng
dc.subjectİç Hastalıkları
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleConsanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.
dc.typeMakale
dc.relation.journalJournal of inherited metabolic disease
dc.contributor.department, ,
dc.identifier.volume28
dc.identifier.issue2
dc.identifier.startpage229
dc.identifier.endpage33
dc.contributor.firstauthorID173872


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