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Disease or Syndrome
hyperglycinemia
Definitions related to hyperglycinemia:
  • An elevated concentration of glycine in the blood.
    Human Phenotype Ontology (HPO)
    The Human Phenotype Ontology Project, 2025
  • 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.
    CRISP Thesaurus
    National Institutes of Health, 2006
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