Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
inborn error of metabolism |
| gptkbp:affects |
central nervous system
|
| gptkbp:alsoKnownAs |
gptkb:glycine_encephalopathy
|
| gptkbp:biochemicalFeature |
elevated glycine in cerebrospinal fluid
elevated glycine in plasma |
| gptkbp:causedBy |
deficiency of glycine cleavage system
|
| gptkbp:diagnosedBy |
genetic testing
measurement of glycine levels |
| gptkbp:firstDescribed |
1961
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Nonketotic Hyperglycinemia
|
| 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
coma seizures lethargy developmental delay apnea |
| gptkbp:treatment |
gptkb:dextromethorphan
sodium benzoate antiepileptic drugs |
| gptkbp:bfsParent |
gptkb:NKH
|
| gptkbp:bfsLayer |
7
|