Id http://purl.bioontology.org/ontology/CSP/1849-0664
http://purl.bioontology.org/ontology/CSP/1849-0664
Preferred Name

hyperglycinemia

Definitions
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.
Synonyms
nonketotic hyperglycinemia
glycinemia
Type http://www.w3.org/2002/07/owl#Class
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