NBS

Question 1

Metabolic disorder with increased risk for E coli neonatal sepsis?

Answer 1

Galactosemia

Question 2

Metabolic disorder causing pseudotumor cerebri

Answer 2

Galactosemia

Question 3

Most common disease involving enzymes of the hexose monophosphate shunt

Answer 3

G6PD

Question 4

Most common cause of Congenital hypothyroidism

Answer 4

Thyroid dysgenesis

Question 5

Earliest sign of Congenital hypothyroidism

Answer 5

Prolongation of physiologic jaundice

Question 6

Most reliable test for congenital adrenal hyperplasia

Answer 6

Cosyntropin test

+): Increased serum 17-hydroxyprogesterone (17-OHP

Question 7

Most common form of Congenital adrenal hyperplasia

Answer 7

Deficiency of 21-hydroxylase enzyme (deficiency of cortisol

Question 8

Most common presentation of Phenylketonuria if without treatment?

Answer 8

Developmental delay

Question 9

Main organ affected by hyperphenylalanemia?

Answer 9

Brain

Question 10

Enzyme deficient in Phenylketonuria?

Answer 10

Phenylalanine hydroxylase

Question 11

Enzyme deficient in Phenylketonuria?

Answer 11

Phenylalanine hydroxylase

Question 12

Most effective mode of therapy in critically ill infants with Maple Syrup Urine Disease?

Answer 12

Hemodialysis