Demystifying inborn errors of metabolism

1. TRUE/FALSE? These are Inborn Errors of Metabolism.
A. Phenylketonuria

1. TRUE/FALSE? These are Inborn Errors of Metabolism.
B. Cystic Fibrosis

1. TRUE/FALSE? These are Inborn Errors of Metabolism.
C. Insulin dependent diabetes mellitis

1. TRUE/FALSE? These are Inborn Errors of Metabolism.
D. Dietary vitamin B12 deficiency

1. TRUE/FALSE? These are Inborn Errors of Metabolism.
E. Medium chain acyl Co A dehydrogenase deficiency

2. Which of the following do not cause hypoketotic hypoglycaemia?
a) VLCAD deficiency
b) MCAD deficeincy
c) Carnitine transporter defect
d) Persitent Hyperinsulinaemic hypgoglycaemia of infancy
e) Propionic acidaemia

3. TRUE/FALSE?
a) Decompensation in MMA is associated with ketosis

3. TRUE/FALSE?
b) MCAD deficiency can lead to hepatic encephalopathy

3. TRUE/FALSE?
c) Ammonia can be raised in fat oxidation defects

3. TRUE/FALSE?
d) Ammonia is always raised in urea cycle defects

3. TRUE/FALSE?
e) Blood gas in decompensated MSUD can be normal

4. In Bangladesh, what do you think should be screened?
A. Infantile Pompe Disease
B. Classical methylmalonic aciduria
C. Congenital hypothyroidism
D. Congenital infections
E. Vitamin B12 deficiency