loading...| Preferred Name |
Galactose epimerase deficiency |
|
| Synonyms |
UDP-galactose-4-epimerase deficiency |
|
| Definitions |
A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_79238 |
|
| alternative_term |
UDP-galactose-4-epimerase deficiency Epimerase deficiency galactosemia Galactosemia type 3 GALE deficiency GALE-D Uridine diphosphate galactose-4-epimerase deficiency |
|
| definition |
A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
UMLS:C0751161 ICD-11:5C51.4Y OMIM:230350 ICD-10:E74.2 |
|
| label |
Galactose epimerase deficiency |
|
| notation |
ORPHA:79238 |
|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_79238 |
|
| prefLabel |
Galactose epimerase deficiency |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |