Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26423
Abstract: Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise phenotypic characterization and an evaluation of… read more here.
Keywords: nonketotic hyperglycinemia; integrative approach; approach predict; predict severity ... See more keywords
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00718-3
Abstract: 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… read more here.
Keywords: classic nonketotic; turkish patients; hyperglycinemia; gene ... See more keywords
Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review.
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0039-1692207
Abstract: Nonketotic hyperglycinemia is a rare inborn error of glycine metabolism characterized by a severe metabolic encephalopathy with drug-resistant seizures. Here, we report the outcome of nonketotic hyperglycinemia in a cohort of patients diagnosed and followed-up… read more here.
Keywords: lebanon year; hyperglycinemia; outcome nonketotic; hyperglycinemia lebanon ... See more keywords
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.13970
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… read more here.
Keywords: biallelic start; variant nonketotic; variant gcsh; loss variant ... See more keywords
The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia
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DOI: 10.3389/fgene.2022.854712
Abstract: Background: Nonketotic hyperglycinemia is a metabolic disease with autosomal recessive inheritance due to the glycine cleavage system (GCS) defect leading to the accumulation of glycine that causes severe and fatal neurological symptoms in the neonatal… read more here.
Keywords: amt gene; family; nonketotic hyperglycinemia; gene chinese ... See more keywords
Clinical, Laboratory, and Short-Term Outcomes in Neonatal Nonketotic Hyperglycinemia
Sign Up to like & getrecommendations! Published in 2021 at "Iranian Journal of Pediatrics"
DOI: 10.5812/ijp.116777
Abstract: Background: Nonketotic hyperglycinemia (NKH) is a rare metabolism disorder with autosomal recessive transmission. Newborn infants characteristically present with hypotonia, lethargy, convulsions, and apnea and are generally lost within the first year of life. Objectives: The… read more here.
Keywords: term; clinical laboratory; short term; term outcomes ... See more keywords