loading...| Preferred Name |
Galactosemia |
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| Synonyms |
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| Definitions |
Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_352 |
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| definition |
Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form (see these terms). |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 |
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| has_age_of_onset |
Childhood Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
UMLS:C0016952 ICD-11:5C51.4Y MedDRA:10017604 OMIM:230400 OMIM:230350 MeSH:D005693 OMIM:230200 |
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| label |
Galactosemia |
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| notation |
Category ORPHA:352 |
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| prefixIRI |
ORDO:Orphanet_352 |
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| prefLabel |
Galactosemia |
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| present_in |
Europe AND has_annual_incidence_average_value : 2.1 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 |
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_308467 http://www.orpha.net/ORDO/Orphanet_93593 |