Question

Deficient G1p-uridyl- transferase. G1p accum to damage kidney, liver, brain.

• Sxs = MR direct hyperbili & jaundice, ↓glc, cataracts, seizures.
• Predisposed to E. coli sepsis.
• No lactose por vida.
A) Phenylketonuria (PKU)
B) Maple syrup urine disease
C) Galactosemia
D) Tay-Sachs disease
E) Cystic fibrosis

Answer 1

Galactosemia is a genetic disorder characterized by a deficiency in the enzyme G1p-uridyl-transferase. It leads to the accumulation of G1p in the body, causing damage to the kidneys, liver, and brain. Symptoms include mental ret*rdation, direct hyperbilirubinemia, jaundice, decreased glucose levels, cataracts, and seizures (Option C).

Step-by-step explanation:

The subject of this question is a genetic disorder called Galactosemia. Galactosemia is characterized by a deficiency in the enzyme G1p-uridyl-transferase, which leads to the accumulation of G1p in the body, causing damage to the kidneys, liver, and brain. This disorder presents with symptoms such as mental ret*rdation, direct hyperbilirubinemia, jaundice, decreased glucose levels, cataracts, and seizures. It also predisposes individuals to E. coli sepsis and requires a lifelong avoidance of lactose.

Overall, Galactosemia is a metabolic disorder that affects the metabolism of galactose, a sugar found in milk and dairy products.

Thus, the correct option is C.