Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia
Document Type
Article
Publication Title
Clinical Genetics
Abstract
The glycine cleavage system H protein (GCSH) is an integral part of the glycine cleavage system with its additional involvement in the synthesis and transport of lipoic acid. We hypothesize that pathogenic variants in GCSH can cause variant nonketotic hyperglycinemia (NKH), a heterogeneous group of disorders with findings resembling a combination of severe NKH (elevated levels of glycine in plasma and CSF, progressive lethargy, seizures, severe hypotonia, no developmental progress, early death) and mitochondriopathies (lactic acidosis, leukoencephalopathy and Leigh-like lesions on MRI). We herein report three individuals from two unrelated Indian families with clinical, biochemical, and radiological findings of variant NKH, harboring a biallelic start loss variant, c.1A > G in GCSH.
First Page
201
Last Page
205
DOI
10.1111/cge.13970
Publication Date
8-1-2021
Recommended Citation
Majethia, Purvi; Somashekar, Puneeth Hirivate; Hebbar, Malavika; and Kadavigere, Rajagopal, "Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia" (2021). Open Access archive. 2637.
https://impressions.manipal.edu/open-access-archive/2637
