loading...| Preferred Name | galactosemia | |
| Synonyms |
galactose 1 phosphate uridylyl transferase deficiency |
|
| Definitions |
group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-3608 |
|
| altLabel |
galactose 1 phosphate uridylyl transferase deficiency |
|
| cui |
C0268151 C0016952 |
|
| definition |
group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts. |
|
| DID |
1849-3608 |
|
| Inverse of RB | ||
| notation |
1849-3608 |
|
| prefLabel |
galactosemia |
|
| tui |
T047 |
|
| subClassOf |