Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia

Narayandas, Majethia Purvi and Somashekar, Puneeth Hirivate and Hebbar, Malavika and Kadavigere, Rajagopal and Girisha, KM and Shukla, Anju (2021) Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia. Clinical Genetics, 100 (2). pp. 201-205. ISSN 0009-9163

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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 i 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.

Item Type: Article
Uncontrolled Keywords: GCSH, glycine cleavage system, lipoic acid, nonketotic hyperglycinemia, variant NKH.
Subjects: Medicine > KMC Manipal > Medical Genetics
Medicine > KMC Manipal > Radiology
Depositing User: KMC Library
Date Deposited: 25 Aug 2021 08:34
Last Modified: 11 May 2022 06:46
URI: http://eprints.manipal.edu/id/eprint/157165

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