Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene
| dc.authorid | 0000-0002-7785-2995 | |
| dc.contributor.author | Çakar, Nafiye Emel | |
| dc.contributor.author | Seyhan, Serhat | |
| dc.date.accessioned | 2021-01-08T06:20:15Z | |
| dc.date.available | 2021-01-08T06:20:15Z | |
| dc.date.issued | 2020 | |
| dc.department | İstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı | |
| dc.description.abstract | Nonketotic 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. | |
| dc.identifier.citation | Çakar, 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. | |
| dc.identifier.endpage | 626 | |
| dc.identifier.issn | 1823-6138 | |
| dc.identifier.issue | 4 | |
| dc.identifier.scopusquality | Q4 | |
| dc.identifier.startpage | 623 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12511/6205 | |
| dc.identifier.volume | 25 | |
| dc.identifier.wosquality | Q4 | |
| dc.indekslendigikaynak | Web of Science | |
| dc.indekslendigikaynak | Scopus | |
| dc.language.iso | en | |
| dc.publisher | ASEAN Neurological Association | |
| dc.relation.ispartof | Neurology Asia | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | |
| dc.rights | info:eu-repo/semantics/embargoedAccess | |
| dc.subject | GLRX5 Gene | |
| dc.subject | Iron-Sulphur Cluster | |
| dc.subject | Nonketotic Hyperglycinemia | |
| dc.title | Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene | |
| dc.type | Article |
