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Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Metabolic brain disease - 1 Aug 2021

Bayrak Harun, Yıldız Yılmaz, Olgaç Asburçe, Kasapkara Çiğdem Seher, Küçükcongar Aynur, Zenciroğlu Ayşegül, Yüksel Deniz, Ceylaner Serdar, Kılıç Mustafa

Abstract excerpt

Nonketotic hyperglycinemia is an autosomal recessive inborn error of glycine metabolism, characterized by deficient activity of the glycine cleavage enzyme system. Classic nonketotic hyperglycinemia is caused by mutations or genomic changes in genes that encode the protein components of the glycine cleavage enzyme system. We aimed to investigate clinical, biochemical, radiological findings and molecular genetic...

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PMID: 33791923
DOI: 10.1007/s11011-021-00718-3

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