Galactosemia

Definition

Galactosemia is a rare genetic disorder that affects the body's ability to process and break down galactose, a simple sugar found in milk and dairy products. It can lead to serious health problems if not managed through dietary restrictions.

5 Must Know Facts For Your Next Test

1. Galactosemia is caused by a deficiency in one of the enzymes needed to convert galactose into glucose.
2. Newborn screening can detect galactosemia early, which is crucial for preventing complications.
3. Common symptoms include jaundice, vomiting, lethargy, and liver enlargement.
4. Dietary management involves avoiding all sources of galactose, including breast milk and dairy products.
5. Without appropriate dietary intervention, galactosemia can lead to liver damage, intellectual disability, and even death.

Review Questions

• What enzyme deficiency causes galactosemia?
• Why is newborn screening important for detecting galactosemia?
• What are the primary dietary restrictions for managing galactosemia?

Related terms

Lactose Intolerance: A condition in which individuals cannot digest lactose due to a deficiency of the enzyme lactase.

Metabolic Disorder: A broad term referring to any disease or condition that disrupts normal metabolism.

Enzyme Deficiency: A condition arising when the body lacks specific enzymes necessary for metabolic processes.