amino acid transport disorders
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
amino acid transport
|
| gptkbp:cause |
developmental delay
neurological symptoms aminoaciduria |
| gptkbp:diagnosedBy |
urine amino acid analysis
|
| gptkbp:example |
gptkb:Hartnup_disease
gptkb:iminoglycinuria gptkb:dicarboxylic_aminoaciduria cystinuria Lysinuric protein intolerance |
| gptkbp:foundIn |
humans
|
| https://www.w3.org/2000/01/rdf-schema#label |
amino acid transport disorders
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:subclassOf |
inborn errors of metabolism
|
| gptkbp:treatment |
dietary management
supplementation |
| gptkbp:bfsParent |
gptkb:SLC6A27
|
| gptkbp:bfsLayer |
7
|