Flashcards
Demystifying inborn errors of metabolism
Flashcards do conjunto (12)
- 11. TRUE/FALSE? These are Inborn Errors of Metabolism. A. PhenylketonuriaTrue
- 21. TRUE/FALSE? These are Inborn Errors of Metabolism. B. Cystic FibrosisTrue. CF is definitely a metabolic disorder – chloride transporter defect (CFTR) causes an increase in chloride leading to all the problems of CF.
- 31. TRUE/FALSE? These are Inborn Errors of Metabolism. C. Insulin dependent diabetes mellitisTrue. DM can be argued to be metabolic as there is a genetic component leading to glucose elevation. (IEM = a genetic problem relating to an elevation of a product or substrate.)
- 41. TRUE/FALSE? These are Inborn Errors of Metabolism. D. Dietary vitamin B12 deficiencyFalse. Diet has no genetic component.
- 51. TRUE/FALSE? These are Inborn Errors of Metabolism. E. Medium chain acyl Co A dehydrogenase deficiencyTrue
- 62. 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 acidaemiaE. Insulin release prevents fat breakdown leading to hypoketotic hypoglycaemia. Propionic acidaemia causes ketotic hypoglycaemia.
- 73. TRUE/FALSE? a) Decompensation in MMA is associated with ketosisTrue
- 83. TRUE/FALSE? b) MCAD deficiency can lead to hepatic encephalopathyTrue
- 93. TRUE/FALSE? c) Ammonia can be raised in fat oxidation defectsTrue
- 103. TRUE/FALSE? d) Ammonia is always raised in urea cycle defectsFalse
- 113. TRUE/FALSE? e) Blood gas in decompensated MSUD can be normalTrue
- 124. 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 deficiencyE