Master Classic Galactosemia with Picmonic for Medicine

This disease is inherited in an autosomal recessive fashion.

This enzyme normally catalyzes galactose-1-phosphate to UDP-galactose in the galactose degradation pathway. This enzyme is absent in classic galactosemia.

The enzyme galactose-1-P uridyltransferase catalyzes the reaction galactose-1-phosphate to UDP-galactose in the galactose degradation pathway. This can then be converted to UDP-glucose or lactose.

Accumulation of galactose causes an increase in galactitol, which can accumulate in the lens of the eye and cause infantile cataracts.

Accumulation of galactose causes an increase in galactitol, which can accumulate in the lens of the eye and cause infantile cataracts.

Infants with classic galactosemia display failure to thrive early in life due to toxic accumulations of galactose-1-phosphate in tissues.

Galactose-1-phosphate uridyl transferase is particularly prevalent in the liver, and deficiency can cause enlargement.

Jaundice is yellowing of the skin and conjunctival membranes caused by hyperbilirubinemia and often liver disease. Galactose-1-phosphate uridyl transferase is particularly prevalent in the liver, and deficiency can cause liver disease leading to jaundice.

Severe elevations of galactose-1-phosphate can also cause brain damage, leading to intellectual disability.

Due to the inhibition of leukocyte bactericidal activity, patients are more prone to developing E. coli sepsis. This is responsible for a high frequency of neonatal death in classic galactosemia.