ALA dehydratase deficiency porphyria
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
metabolic disorder porphyria |
| gptkbp:affects |
heme biosynthesis pathway
|
| gptkbp:alsoKnownAs |
gptkb:ADP
plumboporphyria |
| gptkbp:biochemicalFinding |
elevated delta-aminolevulinic acid (ALA)
|
| gptkbp:causedBy |
deficiency of ALA dehydratase enzyme
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1979
|
| gptkbp:gene |
gptkb:ALAD
|
| gptkbp:hasOrphanetID |
ORPHA:792
|
| https://www.w3.org/2000/01/rdf-schema#label |
ALA dehydratase deficiency porphyria
|
| gptkbp:ICD-10_code |
E80.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
612740
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
nausea
vomiting abdominal pain hypertension muscle weakness peripheral neuropathy |
| gptkbp:treatment |
gptkb:hemin
symptomatic management avoidance of triggers glucose infusions |
| gptkbp:bfsParent |
gptkb:acute_hepatic_porphyria
gptkb:acute_porphyria |
| gptkbp:bfsLayer |
8
|