Galactosemia is an inherited metabolic disorder, which affects how the body processes simple sugar called galactose. Galactose is a sugar that is present in many foods mostly in small increments. Galactose is part of a larger sugar called lactose, which is found in dairy products and the majority of baby formulas. There are several types of galactosemia. There is Classic Galactosemia (as type 1) Galactokinase Deficiency (type 2), and Galactose Epirimase Deficiency (type 3). For the purpose of keeping focus, this paper will cover the specifics of only Type 1, Classic Galactosemia, the most common, most severe form of the condition. .
Galactosemia is caused by a gene contributed from both parents. The disorder results in excessive amounts of sugar being in the blood. A recent publication titled "Sugar Excretion in Infancy,"" reports that an infant patient who suffered from this form of diabetes and died of Galactosemia. Although Von Ruess discovered Galactosemia, it was not until 1917 when a detailed description of the disease was published by Mason and Turner. .
In the early 1900's, when Galactosemia was discovered, the only way to diagnose this rare disorder was by urine analysis. This test showed an excretion of galactose through the urine when milk products were removed from the diet. This test was replaced by the (heel prick) newborn blood screen test that is administered at birth. This was only after the defected gene was determined, away to diagnose the specific disease was developed in 1963. This method was developed by Guthrie and Paigen. (8).
In present day Galactosemia is diagnosed usually during the newborn screening (heel prick) is performed at the sight of the infant's heel of the foot, and therefore is referred to as the "heel prick " blood test. This test usually will be helpful, although in some rare cases the test can be false.
The knowledge of symptoms of galatosemia can assist in diagnoses in that case.
