Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
central nervous system
|
| gptkbp:alsoKnownAs |
gptkb:Glycine_Encephalopathy
|
| gptkbp:causedBy |
deficiency of glycine cleavage system
|
| gptkbp:diagnosedBy |
elevated glycine in plasma and CSF
|
| gptkbp:firstDescribed |
1961
|
| gptkbp:frequency |
rare
|
| gptkbp:fullName |
gptkb:Nonketotic_Hyperglycinemia
|
| https://www.w3.org/2000/01/rdf-schema#label |
NKH
|
| gptkbp:ICD-10_code |
E72.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
605899
|
| gptkbp:onset |
neonatal
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
seizures lethargy developmental delay |
| gptkbp:treatment |
gptkb:dextromethorphan
sodium benzoate |
| gptkbp:bfsParent |
gptkb:Nanjing_South_Railway_Station
|
| gptkbp:bfsLayer |
6
|