" /> Galactosemia I - CISMeF





Preferred Label : Galactosemia I;

Symbol : GALAC1;

CISMeF acronym : GALAC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Galactose-1-phosphate uridylyltransferase deficiency; Galt deficiency; Galactosemia, classic;

Included titles and symbols : Galactosemia, duarte variant;

Description : Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in galactose-1-phosphate uridyltransferase gene (GALT, 230400.0001);

Laboratory abnormalities : Galactose-1-phosphate uridyltransferase deficiency; In untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria;

Prefixed ID : #230400;

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27/07/2025


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