Inborn Errors of Metabolism

Question 1

Are inborn errors of metabolism acute or chronic?

Answer 1

• can be both
• can be paediatric or adults

Question 2

Which of the following are early clinical presentations of inborn errors of metabolism?

1 - Failure to thrive, poor feeding, lethargy
2 - Vomiting
3 - Fits or spasticity
4 - Hepatosplenomegaly
5 - Prolonged jaundice
6 - Hypoglycaemia
7 - Metabolic acidosis
8 - Hyperammonaemia
9 - all of the above

Answer 2

9 - all of the above

Question 3

Which of the following are late clinical presentations of inborn errors of metabolism?

1 - Developmental delay
2 - Neuropathy
3 - Myopathy
4 - Short stature
5 - Dysmorphic features
6 - Refractory rickets
7 - Renal calculi
8 - all of the above

Answer 3

8 - all of the above

Question 4

There are 5 main categories that the UK National Screening Committee (UK NSC) uses certain criteria for appraising the viability, effectiveness and appropriateness of a population screening programme. Which of the following is NOT one of these categories?

1 - The condition
2 - The test
3 - The intervention
4 - The screening programme
5 - The implementation criteria
6 - The prognosis

Answer 4

6 - The prognosis

Question 5

There are 5 main categories that the UK National Screening Committee (UK NSC) uses certain criteria for appraising the viability, effectiveness and appropriateness of a population screening programme. The 1st is the condition. Which of the following is NOT included when thinking about which conditions to include?

1 - is condition an important health problem
2 - does the condition have recognisable latent or early symptomatic phase
3 - Adequate understanding of the natural history of the condition including development from latent to declared disease
4 - can the condition be cured

Answer 5

4 - can the condition be cured

Question 6

There are 5 main categories that the UK National Screening Committee (UK NSC) uses certain criteria for appraising the viability, effectiveness and appropriateness of a population screening programme. Which of the following is NOT included when thinking about the test for a condition?

1 - simple, safe, reliable and valid
2 - clear interpretation of results through cut off values
3 - acceptable to the target population- from sample collection to delivery of results
4 - Agreed policy on the further diagnostic investigation of individuals with a positive test result and on the choices available to those individuals.
5 - is the test cheap

Answer 6

5 - is the test cheap

Question 7

There are 5 main categories that the UK National Screening Committee (UK NSC) uses certain criteria for appraising the viability, effectiveness and appropriateness of a population screening programme. Which of the following is NOT included when thinking about the intervention for a condition?

1 - Evidence that intervention at a pre-symptomatic phase leads to better outcomes for the screened individual compared with usual care.
2 - condition can be cured
3 - Agreed evidence based policies covering which individuals should be offered interventions

Answer 7

2 - condition can be cured

Question 8

There are 5 main categories that the UK National Screening Committee (UK NSC) uses certain criteria for appraising the viability, effectiveness and appropriateness of a population screening programme. Which of the following is NOT included when thinking about the screening programme for a condition?

1 - Available to anyone who wants to be screened
2 - Evidence ( from RCTs) of reduction in mortality or morbidity following screening
3 - Evidence that the complete screening programme (test, diagnostic procedures, treatment/ intervention) is clinically, socially and ethically acceptable to health professionals and the public.
4 - Benefits should outweigh harms (through over diagnosis, over treatment, false positive)
5 - Cost effective

Answer 8

1 - Available to anyone who wants to be screened

Question 9

There are 5 main categories that the UK National Screening Committee (UK NSC) uses certain criteria for appraising the viability, effectiveness and appropriateness of a population screening programme. Which of the following is NOT included when thinking about the Implementation criteria for a condition?

1 - Adequate staffing and facilities for testing, diagnosis, treatment and programme management
2 - All clinicians agree on criteria
3 - Informed consent using evidence based information

Answer 9

2 - All clinicians agree on criteria

Question 10

How many conditions does the newborn screening programme screen for?

1 - 5
2 - 9
3 - 15
4 - 21

Answer 10

2 - 9
- 6 of these conditions are inborn errors of metabolism