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Classic Galactosemia

Classic-car Galactic-toast
Picmonic
Classic galactosemia is a rare autosomal recessive metabolic disorder caused by an absence of the enzyme galactose-1-phosphate uridyltransferase. This enzyme normally catalyzes the reaction galactose-1-phosphate to glucose-1-phosphate in the galactose degradation pathway. An absence of the enzyme causes accumulation of galactose-1-phosphate in various tissues to toxic levels. Individuals commonly present with infantile cataracts due to accumulation of galactitol in the lens, failure to thrive, hepatomegaly and jaundice. Severe elevations of galactose-1-phosphate can also cause brain damage leading to mental retardation. Without treatment, mortality in infants with galactosemia is about 75%. The only treatment for classic galactosemia is complete elimination of lactose and galactose from the diet. It is important not to confuse classic galactosemia from galactokinase deficiency or lactose intolerance.  
10 KEY FACTS
PATHOPHYSIOLOGY
Autosomal Recessive
Recessive-chocolate

This disease is inherited in an autosomal recessive fashion.

Galactose-1-phosphate uridyltransferase is Absent (GALT)
Galactic-toast 1-P with U-transformer being Absent

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

Impaired Galactose-1-P to UDP-Galactose
Galactic-toast 1-P is Impaired from becoming Upside-Down-Pineapple Galactic-toast

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 to lactose.

Galactitol Accumulation in Lens
Galaxy Accumulates in Lens

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

SIGNS AND SYMPTOMS
Infantile Cataracts
Baby Cadillac-cataracts

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

Failure to Thrive
Very Skinny Baby

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

Hepatomegaly
Liver-balloon

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

Jaundice
Jaundice-janitor

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

Intellectual Disability (Mental retardation)
Read-tarred-book

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

Increased Risk E. Coli Sepsis
Up-arrow Risk of E Coal-eye with Sepsis-snake

Due to 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.

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