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

Purvi Majethia, Puneeth Hirivate Somashekar, Malavika Hebbar, Rajagopal Kadavigere, Balike Krishna Praveen, Katta Mohan Girisha, Anju Shukla

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalClinical Genetics
DOIs
Publication statusAccepted/In press - 2021

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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