Galactosemia I (GALAC1)

Alias:

Galactosemia

Galt Deficiency

Classic Galactosemia

Galactose-1-Phosphate Uridyltransferase Deficiency

Galactose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia Type 1

Deficiency of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

Classical Galactosemia

Galactosemia, Classic

Galactose Intolerance

Galactosemias

Galac1

Galput Deficiency - [galactose-4-Phosphate Uridyltransferase] Deficiency

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Deficiency of Utp-Hexose-1-Phosphate Uridylyltransferase

Deficiency of Galactose-1-Phosphate Uridylyltransferase

Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

Deficiency of Hexose-1-Phosphate Uridylyltransferase

Galactose-1-Phosphate Uridyl Transferase Deficiency

Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Udp-Galactose-4-Epimerase Deficiency Disease

Udpglucose 4-Epimerase Deficiency Disease

Transferase Deficiency Galactosemia

Epimerase Deficiency Galactosemia

Galactokinase Deficiency Disease

Deficiency of Uridyl Transferase

Galactose Epimerase Deficiency

Galactosemia, Duarte Variant

Deficiency of Galactokinase

Classical Galactosaemia

Classic Galactosaemia

Galk Deficiency

Gale Deficiency

Galactosemia 1

Galactosaemia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Galactosemia I, also known as galactosemia, is related to galactosemia iii and galactosemia ii, and has symptoms including diarrhea, vomiting and icterus. An important gene associated with Galactosemia I is GALT (Galactose-1-Phosphate Uridylyltransferase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. 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 abnormality of the nervous system and male infertility

Related ID：

MALACARDS：GLC113

OMIM：230400

MESH：D005693

ICD11：2011000259