Galactosemia
You were visiting a friend to congrats on her newborn baby at a neonatal ward. Her baby is in a healthy condition. However, the neighbor of your friend in the same ward, shared with you that her baby is diagnosed to having & galactosemia. Your friend is bewildered with the sharing. What would explain to her ?
Introduction
Galactosemia, which means “galactose in the blood”, is a rare inherited condition. People with galactosemia have problems digesting a type of sugar called galactose from the food they eat. Because they cannot break galactose down properly, it builds up in their blood. Galactose is found in milk and all foods that contain milk. In order for the body to use different types of carbohydrates and sugars from the food we eat, special enzymes break them down into smaller sugar molecules called glucose, which the body uses for fuel.
Galactosemia occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase’ (GALT) is either missing or not working properly. This enzyme’s job is to change galactose into glucose. When the GALT enzyme is missing or not working properly, galactose cannot be changed to glucose so it builds up in the blood in large amounts. Unless treated, the excess galactose will affect many parts of the body and, over time, may be life-threatening.
Lactose, also called ‘milk sugar’ is the main type of sugar found in milk and milk products. It is made of one molecule of galactose and one molecule of glucose. Thus, all lactose, and all milk and milk products, contain galactose. During digestion, lactose is broken down to galactose and glucose. Then galactose is further changed by the body into glucose so it can be used as energy. |
Signs and SymptomsThe disease usually appears in the first few days of life following the ingestion of breast milk or formula
|
Treatment
|