A congenital condition where the liver is incapable of converting galactose into glucose, with the result that a baby’s development may be affected.
A rare, recessively inherited disease, (around 1 in 75,000 births). Its importance lies in the disastrous consequences of it being overlooked, and results from the deficiency of an enzyme essential for the metabolism of galactose. Normal at birth, affected infants develop jaundice, vomiting, diarrhoea, and fail to thrive on starting milk feeds. If the disorder remains un-recognized, liver disease, cataracts and mental retardation result. Treatment consists of a lactose-free diet.
This is an uncommon inherited condition where the body lacks the ability to transform galactose, a simple sugar derived from lactose (the sugar found in milk), into another simple sugar, glucose. This is due to the absence of a specific enzyme, a protein that facilitates and accelerates reactions, in the liver and red blood cells.
Galactosaemia typically doesn’t present any symptoms at birth. However, after a few days, conditions such as jaundice, diarrhoea, and vomiting may occur, and the baby may not gain weight as expected. If the disorder is not treated, it can lead to complications like liver disease, cataracts, which are cloudings in the eye lenses, and learning difficulties.
The diagnosis of this condition is established through urine and blood tests. An individual diagnosed with this condition must abstain from milk products and use lactose-free milk for their entire life.