Final answer:
Galactosemia is a genetic disorder caused by an inability to metabolize galactose. It leads to symptoms like diarrhea and vomiting and increases susceptibility to infections, especially by Candida species. Treatment involves a lactose-free diet.
Step-by-step explanation:
Galactosemia Overview
Galactosemia is a genetic disorder characterized by the inability to properly metabolize galactose, a sugar found in milk. Patients with galactosemia lack the enzyme galactose-1-phosphate uridyl transferase, leading to the accumulation of galactose in the blood (galactosemia) and its excretion in urine (galactosuria). This can cause serious symptoms such as diarrhea and vomiting when the patient consumes milk or milk products.
Symptoms and Infection Susceptibility
Common symptoms of galactosemia include prolonged neonatal jaundice, vomiting, and diarrhea. Additionally, affected individuals are prone to infections because the accumulated galactose can have a deleterious effect on immune cells. Specifically, those with galactosemia may be more susceptible to infections by Candida species, which cause oral thrush, especially in infants and immunocompromised individuals.
Treatment
Treatment for galactosemia involves the elimination of lactose and galactose from the diet, often requiring the use of lactose-free milk substitutes.