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📋Overview
Galactosemia is a rare inherited metabolic disorder characterized by the body's inability to properly metabolize galactose, a sugar found in milk and dairy products. It is caused by deficiencies in enzymes responsible for converting galactose into glucose, most commonly galactose-1-phosphate uridylyltransferase (GALT). The modern preferred term remains galactosemia, with subtypes defined by the specific enzyme deficiency.
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Medical codes (for reference)
UMLS CUI: C0016952ICD-10-CM
E74.21
MeSH
D005693
SNOMED CT (US)
190745006
Codes are provided for reference and interoperability. They are not a diagnosis.
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