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Concept
Galactosemia
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Summary
Galactosemia is a rare
Genetic metabolic disorder
characterized by the
Inability to properly metabolize galactose
, leading to
Toxic Accumulation
that can cause
Serious Health Issues
if untreated.
Early Diagnosis
and
Dietary Management
, primarily by
Eliminating lactose
and galactose from the diet, are crucial to
Prevent Complications
such as
Liver Damage
,
Intellectual Disability
, and cataracts.
Concepts
Galactose-1-phosphate Uridyltransferase Deficiency
Autosomal Recessive Inheritance
Newborn Screening
Dietary Management
Metabolic Disorder
Lactose Intolerance
Galactose-free Diet
Genetic Mutation
Liver Dysfunction
Cataract Formation
Intellectual Disability
Galactose Metabolism
Carbohydrate Metabolism Disorders
Breastfeeding Contraindications
Leloir Pathway
Galactokinase
UDP-galactose 4'-epimerase
Galactose-1-phosphate Uridylyltransferase Deficiency
Inborn Errors Of Metabolism
Galactose
Infant Metabolic Disorders
Relevant Degrees
Pathology of the Digestive System 100%
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