14188643
Beschreibung
Karteikarten von Averil Tam, aktualisiert more than 1 year ago
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Erstellt von Averil Tam
vor fast 6 Jahre
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| Frage | Antworten |
| 1. TRUE/FALSE? These are Inborn Errors of Metabolism. A. Phenylketonuria | True |
| 1. TRUE/FALSE? These are Inborn Errors of Metabolism. B. Cystic Fibrosis | True. CF is definitely a metabolic disorder – chloride transporter defect (CFTR) causes an increase in chloride leading to all the problems of CF. |
| 1. TRUE/FALSE? These are Inborn Errors of Metabolism. C. Insulin dependent diabetes mellitis | True. 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.) |
| 1. TRUE/FALSE? These are Inborn Errors of Metabolism. D. Dietary vitamin B12 deficiency | False. Diet has no genetic component. |
| 1. TRUE/FALSE? These are Inborn Errors of Metabolism. E. Medium chain acyl Co A dehydrogenase deficiency | True |
| 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 | E. Insulin release prevents fat breakdown leading to hypoketotic hypoglycaemia. Propionic acidaemia causes ketotic hypoglycaemia. |
| 3. TRUE/FALSE? a) Decompensation in MMA is associated with ketosis | True |
| 3. TRUE/FALSE? b) MCAD deficiency can lead to hepatic encephalopathy | True |
| 3. TRUE/FALSE? c) Ammonia can be raised in fat oxidation defects | True |
| 3. TRUE/FALSE? d) Ammonia is always raised in urea cycle defects | False |
| 3. TRUE/FALSE? e) Blood gas in decompensated MSUD can be normal | True |
| 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 | E |
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