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dc.contributor.authorÇakar, Nafiye Emel
dc.contributor.authorSeyhan, Serhat
dc.date.accessioned2021-01-08T06:20:15Z
dc.date.available2021-01-08T06:20:15Z
dc.date.issued2020en_US
dc.identifier.citationÇakar, N. E. ve Seyhan, S. (2020). Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene. Neurology Asia, 25(4), 623-626.en_US
dc.identifier.issn1823-6138
dc.identifier.urihttps://hdl.handle.net/20.500.12511/6205
dc.description.abstractNonketotic hyperglycinemia (NKH) is caused by defects in the glycine cleavage system. Hyperglycinemia without biallelic mutations in one of the 4 genes that encode the constituents of the glycine cleavage system is classified as ‘variant NKH’. The defects in these cases are in the iron-sulphur cluster biogenesis and lipoate synthesis pathways. The GLRX5 gene is one of the genes in these new pathways. We report here an 8.5-year-old male patient presented with spasticity, ataxia and optic atrophy. He lost his ability to walk after a febrile infection at the age of 1.5 year. The patient’s cognitive functions were preserved. His plasma glycine level and cerebrospinal fluid/plasma glycine ratio were high. A novel homozygous mutation p.Gly116Asp (c.347G>A) in the GLRX5 gene was identified by whole exome sequencing. In conclusion, in a child, who have neurological regression, spasticity, ataxia, and whom cognitive functions are partially preserved, if plasma glycine level is high, variant NKH should be considered in the differential diagnosis.en_US
dc.language.isoengen_US
dc.publisherASEAN Neurological Associationen_US
dc.rightsinfo:eu-repo/semantics/embargoedAccessen_US
dc.subjectGLRX5 Geneen_US
dc.subjectIron-Sulphur Clusteren_US
dc.subjectNonketotic Hyperglycinemiaen_US
dc.titleVariant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 geneen_US
dc.typearticleen_US
dc.relation.journalNeurology Asiaen_US
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.authorid0000-0002-7785-2995en_US
dc.identifier.volume25en_US
dc.identifier.issue4en_US
dc.identifier.startpage623en_US
dc.identifier.endpage626en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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