Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
inherited metabolic disorder
|
| gptkbp:affects |
central nervous system
|
| gptkbp:alsoKnownAs |
gptkb:glutaric_acidemia_type_I
|
| gptkbp:canPresentIn |
infancy
early childhood |
| gptkbp:cause |
accumulation of 3-hydroxyglutaric acid
accumulation of glutaric acid basal ganglia injury |
| gptkbp:characterizedBy |
deficiency of glutaryl-CoA dehydrogenase
|
| gptkbp:diagnosedBy |
genetic testing
urine organic acid analysis |
| gptkbp:firstDescribed |
1975
|
| https://www.w3.org/2000/01/rdf-schema#label |
glutaric aciduria type I
|
| gptkbp:ICD-10_code |
E72.3
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
GCDH gene
|
| gptkbp:OMIM |
231670
|
| gptkbp:prevalence |
1 in 100,000 births
|
| gptkbp:riskFactor |
acute encephalopathic crisis
|
| gptkbp:symptom |
movement disorders
developmental delay dystonia macrocephaly |
| gptkbp:treatment |
carnitine supplementation
emergency management during illness low-lysine diet |
| gptkbp:bfsParent |
gptkb:GCDH
|
| gptkbp:bfsLayer |
7
|