methylmalonic aciduria and homocystinuria, cblJ type
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
inborn error of metabolism |
| gptkbp:associatedWith |
vitamin B12 metabolism
|
| gptkbp:characterizedBy |
failure to thrive
developmental delay neurological symptoms feeding difficulties elevated homocysteine elevated methylmalonic acid |
| gptkbp:firstDescribed |
2011
|
| https://www.w3.org/2000/01/rdf-schema#label |
methylmalonic aciduria and homocystinuria, cblJ type
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
ABCD4 gene
|
| gptkbp:OMIM |
614857
|
| gptkbp:symptom |
gptkb:anemia
hypotonia seizures microcephaly |
| gptkbp:treatment |
dietary management
hydroxocobalamin betain |
| gptkbp:bfsParent |
gptkb:CD320
|
| gptkbp:bfsLayer |
8
|