hereditary folate malabsorption
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
inborn error of metabolism |
| gptkbp:affects |
cerebrospinal fluid folate transport
intestinal folate absorption |
| gptkbp:deficiencyCauses |
folate
|
| gptkbp:diagnosedBy |
low serum and CSF folate levels
|
| gptkbp:firstDescribed |
1961
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary folate malabsorption
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
SLC46A1 gene
|
| gptkbp:OMIM |
229050
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
immunodeficiency
neurological deficits megaloblastic anemia |
| gptkbp:treatment |
parenteral folinic acid
|
| gptkbp:bfsParent |
gptkb:SLC46A1
|
| gptkbp:bfsLayer |
7
|