All of the following are true about Galactosemia EXCEPT?
**Galactosemia Core Concept**
Galactosemia is a rare genetic disorder characterized by the inability to metabolize galactose, a sugar found in milk and other dairy products. It results from a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT), which is essential for the conversion of galactose to glucose.
**Why the Correct Answer is Right**
Galactosemia occurs when the GALT enzyme is deficient or absent, leading to the accumulation of galactose-1-phosphate in the body. This buildup of toxic metabolites causes damage to the liver, kidneys, and other organs. Infants with galactosemia may develop symptoms such as jaundice, vomiting, and failure to thrive if left untreated.
**Why Each Wrong Option is Incorrect**
**Option A:** Galactosemia is often diagnosed through a newborn screening test, which checks for elevated levels of galactose-1-phosphate in the blood. This statement is true.
**Option B:** Individuals with galactosemia must adhere to a strict lactose-free diet, which excludes milk and other dairy products that contain galactose. This statement is true.
**Option C:** The most common type of galactosemia is due to a deficiency of the GALT enzyme, which is inherited in an autosomal recessive pattern. This statement is true.
**Option D:** Galactosemia is associated with an increased risk of developing cancer, particularly ovarian cancer. This statement is false.
**Clinical Pearl / High-Yield Fact**
A key clinical feature of galactosemia is the presence of a "classic" odor on the breath, described as sweet or musty, which is due to the accumulation of galactose and its metabolites.
**Correct Answer: D. Galactosemia is associated with an increased risk of developing cancer, particularly ovarian cancer.**