Article

AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia

2023-12-15

Abstract excerpt

Non-Ketotic Hyperglycinemia (NKH) is a rare inborn error of metabolism caused by impaired function of the glycine cleavage system (GCS) and characterised by accumulation of glycine in body fluids and tissues. NKH is an autosomal recessive condition and the majority of affected individuals carry mutations in GLDC (glycine decarboxylase). Current treatments for NKH are not effective or curative. As a monogenic cond...

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Literature Corpus work: 0e0dc212-d5ae-567d-a256-b32cf4730035
DOI: 10.1101/2023.12.15.571844

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