autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial glycine cleavage system; an enzyme system with four components: p-, t-, h-, and l-proteins; deficiency of the p-protein is the most prevalent form; clinical features include seizures, hypotonia, apnea, and coma; when the illness presents in childhood there tends to be an associated progressive dementia accompanied by extrapyramidal signs.

Data Correlations | 2 studies

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Genes	Score
SLC6A9	100
AMT	91
GLDC	91
GCSH	91

View Top Genes

Biogroups	Score
Glycine Serine and Threonine Metabo…	100
One Carbon Pool by Folate	99
Pyridoxal phosphate-dependent trans…	97
Pyridoxal phosphate-dependent trans…	97
Nitrogen Metabolism	97

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Individual Studies

Mouse Phenotypes - Metabolic disease Mus musculus |   Mutations/Phenotypic This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni… Source: NextBio Library/Mutation and Phenotypic data

OMIM - Congenital disorder Homo sapiens |   Mutations/Phenotypic This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories. Source: NextBio Library/Mutation and Phenotypic data

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Literature | 449 results

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• Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia.

  Authors: Brett J Manley, Jenni Sokol, Jeanie L Y Cheong

  Pediatric neurology 2010 Mar

• The efficacy of vagus nerve stimulation in intractable epilepsy associated with nonketotic hyperglycinemia in two children.

  Authors: Chang-Yong Tsao

  Journal of child neurology 2010 Mar

Associated Researchers

Thought leaders and organizations working on research involving hyperglycinemia.

View All Authors

• Shigeo Kure
• Yoichi Matsubara
• Stanley H Korman
• D A Applegarth
• J R Toone

View All Organizations

• University of British Columbia
• Tohoku University School of Medicine
• Children's Hospital at Westmead
• Cincinnati Children's Hospital Medical Center
• Hadassah-Hebrew University Medical Center

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