Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
gptkb:Nonketotic_hyperglycinemia
|
| gptkbp:causedBy |
deficiency of glycine cleavage system
|
| gptkbp:diagnosedBy |
elevated glycine in plasma and CSF
|
| gptkbp:firstDescribed |
1961
|
| gptkbp:ICD-10_code |
E72.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:AMT_gene
gptkb:GCSH_gene gptkb:GLDC_gene gptkb:SLC6A9_gene |
| gptkbp:OMIM |
605899
|
| gptkbp:onset |
neonatal
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
coma seizures lethargy developmental delay apnea |
| gptkbp:treatment |
gptkb:dextromethorphan
sodium benzoate |
| gptkbp:bfsParent |
gptkb:NKH
|
| gptkbp:bfsLayer |
7
|
| http://www.w3.org/2000/01/rdf-schema#label |
Glycine Encephalopathy
|