Log In|Sign Up
ENGalactosemia Ii (GALAC2)
Alias:
Galactokinase Deficiency
Galk Deficiency
Galactokinase Deficiency with Cataracts
Deficiency of Galactokinase
Galactokinase Deficiency Galactosemia
Galactosemia Type 2
Galac2
Galk-D
Galactokinase Deficiency, Cataract
Galk - [galactokinase Deficiency]
Galactosemia 2
Galactosemias
Favorite
Galactosemia Ii, also known as galactokinase deficiency, is related to galactosemia iii and galactosemia i. An important gene associated with Galactosemia Ii is GALK1 (Galactokinase 1), and among its related pathways/superpathways are Disorders of galactose metabolism and Galactose metabolism. The drugs Aspartic acid and Arginine have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are hypergalactosemia and increased level of galactitol in plasma
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
