📋Overview
The condition results from a deficiency in specific enzymes responsible for converting galactose into glucose, most frequently the enzyme galactose-1-phosphate uridylyltransferase. This metabolic disruption leads to an accumulation of galactose and its metabolites in the blood and tissues.
Subtypes of this genetic disorder are categorized according to the particular enzyme deficiency involved in the metabolic pathway. It is typically inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene to manifest the condition.
Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.
Medical codes (for reference)
UMLS CUI: C0016952Codes are provided for reference and interoperability. They are not a diagnosis.
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