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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79238
A very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism.
Overall prevalence is not known but the disorder is thought to be very rare. Annual incidence is not known.
The disorder represents a continuum from peripheral to generalized states with corresponding disease severity. When ingesting breast milk or lactose- containing formula, patients may develop hypotonia, poor feeding, vomiting, weight loss, jaundice, hepatomegaly, splenomegaly, liver disorders, aminoaciduria, impaired growth, cataracts and cognitive deficiency. In severe cases, the disease can be life-threatening.
Galactose epimerase deficiency is caused by mutations in the GALE gene (1p36) encoding the UDP-galactose 4-epimerase enzyme.
Galactose epimerase deficiency is inherited in an autosomal recessive manner.
Occurrence of these symptoms can be resolved or prevented by implementing a galactose-restricted diet.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
Last updated on 04-27-20
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