Metabolic Disorders - Cases

Question 1

Which one of these organic acidemias presents with a characteristic odour of ‘sweaty feet?’

Isovaleric acidemia.

Propionic acidemia.

Methylmalonic acidemia.

Answer 1

Isovaleric acidemia.

Question 2

A 2-year-old boy comes into the emergency room with a known diagnosis of OTC (ornithine transcarbamylase) deficiency. You remember that this inborn error of metabolism is an example of a urea cycle defect. As part of your initial investigations, which lab parameter do you expect?

A. High urea
B. Low urinary orotic acid.
C. Hyperammonemia

Answer 2

Hyperammonemia

Question 3

Patients with galactosemia seem to be particularly susceptible to infections by _________:

Answer 3

E. coli

Question 4

Hunter and Hurler syndrome can present similarly, except in Hurler syndrome, there is ______.

A. Coarse facial features.
B. Developmental delay.
C. Corneal clouding.
D. Hepatosplenomegaly.

Answer 4

Corneal clouding.

Question 5

A 4-week old infant is brought into the emergency room with a history consisting of vomiting, irritability and lethargy. You are considering an inborn error of metabolism in the differential diagnosis. What is the most important first step in management?

A. Stop protein
B. Fluid resuscitation
C. High dextrose containing fluid administration.
D. Nitrogen Scavenging

Answer 5

B

Question 6

Lesch-Nyhan syndrome, a disorder caused by deficiency in the HPRT enzyme can present in a child referred for ____________.

A. Self-mutilation.
B. Trichotillomania
C. Brown Precipitates in the urine
D. Early Onset juvenile idopathic arthritis

Answer 6

A

Question 7

Which one of these conditions presents very similarly to Marfan’s syndrome?
A.Phenylketonuria.
B. MPS I (Hurler Syndrome)
C. Homocystinuria.
D. Tay Sachs

Answer 7

C