Galactosemia Ii (GALAC2)

Galactosemia Ii(来自ICD-11)
别称:
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
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
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
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相关ID:
MESH:D005693
ICD11:1173858031

基础信息

遗传方式
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参考文献
MALACARDS
AR
Newborn
--
15
67
34

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