Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
inherited metabolic disorder
|
| gptkbp:affects |
lysine metabolism
|
| gptkbp:cause |
gptkb:encephalopathy
movement disorders dystonia macrocephaly accumulation of glutaric acid |
| gptkbp:causedBy |
mutation in GCDH gene
|
| gptkbp:diagnosedBy |
genetic testing
urine organic acid analysis |
| gptkbp:firstDescribed |
1975
|
| https://www.w3.org/2000/01/rdf-schema#label |
glutaric acidemia type I
|
| gptkbp:ICD-10_code |
E72.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
231670
|
| gptkbp:prevalence |
1 in 100,000 births
|
| gptkbp:synonym |
gptkb:glutaric_aciduria_type_I
GA-I |
| gptkbp:treatment |
carnitine supplementation
emergency management during illness low lysine diet |
| gptkbp:bfsParent |
gptkb:GCDH
|
| gptkbp:bfsLayer |
7
|