Results for: Galactosemia

What is galactosemia?

Galactosemia is a rare genetic metabolic disorder, in which an individual (usually an infant) lacks the enzyme GALT, which breaks down the sugar galactose in the body. Since (MORE)

What does Galactosemia do?

Galactosemia is an enzyme deficiency that can severely affect newborns. Classic Galactosemia is a rare genetic metabolic disorder. The child with classic galactosemia inher (MORE)

What causes Galactosemia?

Galactosemia is a very rare disease that is received through a recessive trait. It is hardly diagnosed but can also be very easily confused with lactose intolerance. Though (MORE)

What are the symptoms of galactosemia?

galactosemia is a rare congenital disease in infants, inherited as an autosomal recessive disorder. here galactose metabolism is impaired leading to increased galactose levels (MORE)
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What is the cause of galactosemia I?

Caused by defects in both copies of the gene that codes for an enzyme called galactose-1-phosphate uridyl transferase (GALT). There are 30 known different mutations in this ge (MORE)