Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene
Neurology Asia, cilt.25, sa.4, ss.623-626, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 25 Sayı: 4
- Basım Tarihi: 2020
- Dergi Adı: Neurology Asia
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE
- Sayfa Sayıları: ss.623-626
- Anahtar Kelimeler: GLRX5 gene, Iron-sulphur cluster, Nonketotic hyperglycinemia
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.