Galactosaemia - Symptom, Treatment and cause of Galactosaemia

Galactosaemia Description

(Galactokinase Deficiency)

A disturbance of the way in which the sugar galactose in milk is metabolised (broken down).

Galactosaemia Cause

A congenital lack of the liver enzyme galactokinase that is responsible for galactose metabolism.

Galactosaemia Symptom

Vomiting, failure to thrive, liver disease, mental retardation and eye cataracts in an infant.

Investigation

Specific diagnostic tests on red blood cells.

Galactosaemia Treatment

Strict dietary avoidance of all milk products.

Complications

Increased risk of infection.

Prognosis of Galactosaemia

A strict diet will prevent all the symptoms except mental retardation.