Galactosemia
Alternate Names : Galactokinase Deficiency, Galactose-1-Phosphate Uridyl Transferase Deficiency, Galactose-6-Phosphate Epimerase Deficiency
Definition Galactosemia is the inability of the body to use (metabolize) the simple sugar galactose (causing the accumulation of galactose 1-phosphate), which then reaches high levels in the body, causing damage to the liver, central nervous system, and various other body systems.
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Topics that might be of interest to you Diseases & Conditions
• Ascites
• Cataract
• Cirrhosis
• Hypoglycemia
• Mental Retardation
Tests & Exams
• Aminoaciduria
• Galactose-1-Phosphate Uridyltransferase
Other Topics
• Autosomal Recessive
• Enzyme
• Fatigue
• Genetic Counseling and Prenatal Diagnosis
• Hepatomegaly
• Irritability
• Jaundice - Yellow Skin
• Metabolize
• Nausea and Vomiting
• Poor Feeding in Infants
• Protein in Diet
• Seizures
• Weight Gain - Unintentional
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