Galactosemia Iii (GALAC3)

Alias:

Galactose Epimerase Deficiency

Gale Deficiency

Udp-Galactose-4-Epimerase Deficiency

Epimerase Deficiency Galactosemia

Uridine Diphosphate Galactose-4-Epimerase Deficiency

Galactosemia Type 3

Gale-D

Generalized Uridine Diphosphate Galactose-4-Epimerase Deficiency

Erythrocyte Uridine Diphosphate Galactose-4-Epimerase Deficiency

Galac3

Generalized Udp-Galactose-4-Epimerase Deficiency

Erythrocyte Udp-Galactose-4-Epimerase Deficiency

Generalized Epimerase Deficiency Galactosemia

Erythrocyte Epimerase Deficiency Galactosemia

Generalized Galactose Epimerase Deficiency

Erythrocyte Galactose Epimerase Deficiency

Udpglucose 4-Epimerase Deficiency Disease

Udp-Galactose-4'-Epimerase Deficiency

Udpglucose-4-Epimerase Deficiency

Generalized Gale Deficiency

Erythrocyte Gale Deficiency

Classical Galactosemia

Galactosemia Type Iii

Generalized Gale-D

Erythrocyte Gale-D

Galactosemia 3

Galactosemias

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Galactosemia Iii, also known as galactose epimerase deficiency, is related to galactosemia ii and galactosemia i, and has symptoms including diarrhea, vomiting and icterus. An important gene associated with Galactosemia Iii is GALE (UDP-Galactose-4-Epimerase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Retrograde transport at the Trans-Golgi-Network. The drugs Aspartic acid and Arginine have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and nausea and vomiting

Related ID：

MALACARDS：GLC112

OMIM：230350

MESH：D005693