Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inborn error of metabolism |
| gptkbp:affects |
galactose metabolism
|
| gptkbp:causedBy |
mutation in GALE gene
mutation in GALK1 gene mutation in GALT gene |
| gptkbp:complication |
kidney failure
sepsis liver damage ovarian failure |
| gptkbp:diagnosedBy |
genetic testing
enzyme assay newborn screening |
| gptkbp:firstDescribed |
1935
|
| https://www.w3.org/2000/01/rdf-schema#label |
galactosemia
|
| gptkbp:ICD-10_code |
E74.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
galactose
|
| gptkbp:OMIM |
230400
|
| gptkbp:prevalence |
1 in 30,000 to 60,000 births
|
| gptkbp:symptom |
gptkb:cataracts
vomiting intellectual disability jaundice failure to thrive hepatomegaly |
| gptkbp:treatment |
galactose-free diet
|
| gptkbp:bfsParent |
gptkb:Fraction_Rite
|
| gptkbp:bfsLayer |
6
|