Disorders of aromatic amino-acid metabolism
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
|
| gptkbp:affects |
aromatic amino acid metabolism
|
| gptkbp:cause |
developmental delay
neurological symptoms |
| gptkbp:causedBy |
enzyme deficiency
|
| gptkbp:diagnosedBy |
amino acid analysis
|
| https://www.w3.org/2000/01/rdf-schema#label |
Disorders of aromatic amino-acid metabolism
|
| gptkbp:ICD-10_code |
E70
|
| gptkbp:includes |
gptkb:maple_syrup_urine_disease
gptkb:phenylketonuria gptkb:alkaptonuria tyrosinemia |
| gptkbp:symptom |
intellectual disability
seizures growth retardation |
| gptkbp:treatment |
dietary management
enzyme replacement therapy |
| gptkbp:bfsParent |
gptkb:E70.3
|
| gptkbp:bfsLayer |
8
|