Genetic Information

🔹Chromosome # 8

🔹Gene/Protein Name:
GALT gene or galactose-1-phosphate uridylyltransferase

🔹Protein Function:
enables the body to process a simple sugar called galactose, converts a modified form of galactose (galactose-1-phosphate) to glucose, which is another simple sugar.

🔹Galactosemia causes mutations severely reduce or eliminate the activity of the GALT. A shortage of this enzyme prevents cells from processing galactose obtained from their diet. As a result, galactose-1-phosphate and related compounds can build up to toxic levels in the body.

Disorder Type:

🔹Gene Mutation
🔹autosomal recessive

🔹Nucleotide mutation: substitution