Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
central nervous system
|
| gptkbp:alsoKnownAs |
gptkb:nonketotic_hyperglycinemia
|
| gptkbp:biochemicalFeature |
high glycine levels in body fluids
|
| gptkbp:causedBy |
deficiency of glycine cleavage system
|
| gptkbp:diagnosedBy |
elevated glycine in plasma and CSF
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
glycine encephalopathy
|
| gptkbp:ICD-10_code |
E72.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D006022
|
| gptkbp:mutationAssociatedWith |
gptkb:AMT_gene
gptkb:GCSH_gene gptkb:GLDC_gene |
| gptkbp:OMIM |
605899
|
| gptkbp:onset |
neonatal period
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
seizures lethargy developmental delay apnea |
| gptkbp:treatment |
gptkb:dextromethorphan
sodium benzoate |
| gptkbp:bfsParent |
gptkb:Nonketotic_Hyperglycinemia
gptkb:GCSH gptkb:nonketotic_hyperglycinemia |
| gptkbp:bfsLayer |
8
|