Metabolics

Question 1

A 3 day old term boy has been vomiting repeatedly and is now very lethargic, but breathing rapidly with an SaO2 of 98% . Which of the following is most likely?

1. Severe anemia.
2. Severe hyperbilirubinemia.
3. Hyperammonemia.
4. Hyperuricemia.
5. Hyperglycinemia.

Answer 1

3. Hyperammonemia.

Question 2

Which of the following is the best clue to a probable genetic disease?

1. The child’s older brother died of an unknown cause.
2. There is a family history of dementia.
3. The child is adopted.
4. There is a history of cancer in distant relatives.
5. The parents are first cousins.

Answer 2

1. The child’s older brother died of an unknown cause.

Question 3

A 7 month old previously well boy presents in coma preceded by a 2 day history of fever, runny nose and a cough. Which of the following is the best initial treatment?

1. Gavage feeds with low protein formula.
2. Peritoneal dialysis.
3. Load with phenobarb.
4. Consult neurology/genetics/metabolics.
5. Start an infusion of D10/N saline @ 1.5 maintenance.

Answer 3

5. Start an infusion of D10/N saline @ 1.5 maintenance.

Question 4

FTND Birth Weight 2900 g Mother 29 years, para 0; father 35 Breast fed
Discharged day 3
Progressive anorexia, vomiting days 2 - 10
Dehydration, hypothermia, thrush Sepsis w/u ® RUL pneumonia
WBC: 3600 (60% polys)
platelets: 192 K
VBG: pH 7.03
Lytes: Na 146 Cl 103
K 3.9 HCO3 5 AG 38
Product of a Consanguineous Union
Which of the following tests is best to define the Diagnosis A. Plasma Amino acids
B. Plasma Acylcarnitine
C. Plasma Carnitine (Total and Free)
D. Urine Organic acids
E. None of the above

Answer 4

D. Urine Organic acids

Question 5

20 mo old white female previously healthy URTI x 3 days,
Eating poorly and Refused supper
Found seizing in bed at 4 a.m.

Initial ER Evaluation:
Somnolent
Na 140 Cl 114
K 4.1 HCO3 9 AG 21 Glucose - 2.1 mmol/L
Urinalysis - “normal”

Which of the following tests is best to define the Diagnosis A. Plasma Amino acids
B. Plasma Acylcarnitines
C. Plasma Carnitine (Total and Free)
D. Urine Organic acids 
E. None of the above

Answer 5

B. Plasma Acylcarnitines

Question 6

If a newborn screening test is too sensitive there will be an unacceptable number of

1. False negative tests.
2. False positive tests.
3. Inconclusive tests.
4. True positive tests.
5. True negative tests.

Answer 6

2. False positive tests.

Question 7

One of your patients is newborn screen positive for Galactosemia.Which of the following infant feeds is required for treatment

1. Enfamil
2. Prosobee
3. Breast milk
4. Presidents Choice
5. Similac

Answer 7

2. Prosobee

Question 8

Which of the following is NOT part of the critical blood sample in hypoglycemia?

1. Insulin
2. Glucose
3. Beta Hydroxybuterate and Free fatty acids
4. Lactic
5. Liver function tests

Answer 8

5. Liver function tests

Question 9

A 2yo child is brought to the ED via ambulance.
During the trip blood glc was found to be 1.8mmol/L. Glucagon was given.
Ten minutes later at the ED it was found to be 4.0mmol/L. Which of the following is the most likely diagnosis
1. Glycogen storage disease type 1 2. MCAD deficiency
3. Hyperinsulinism
4. Ketotic hypoglycemia
5. Adrenal Insufficiency

Answer 9

3. Hyperinsulinism

Question 10

Which of the following is NOT indicated as a front line investigation for a child with ASD

1. Chromosome microarray
2. Fragile X testing
3. Lactic acid
4. Amino acids
5. Brain MRI

Answer 10

5. Brain MRI