hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:urea_cycle_disorder
genetic disorder |
| gptkbp:affects |
gptkb:mitochondrial_ornithine_transporter
|
| gptkbp:alsoKnownAs |
HHH syndrome
|
| gptkbp:diagnosedBy |
genetic testing
amino acid analysis |
| https://www.w3.org/2000/01/rdf-schema#label |
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
SLC25A15 gene
|
| gptkbp:OMIM |
238970
|
| gptkbp:onset |
childhood
neonatal |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
spasticity
seizures ataxia developmental delay liver dysfunction hyperammonemia homocitrullinuria hyperornithinemia |
| gptkbp:treatment |
ammonia scavenging drugs
arginine supplementation protein-restricted diet |
| gptkbp:bfsParent |
gptkb:SLC25A15
|
| gptkbp:bfsLayer |
8
|