Pathology EMQ template.

Name: Kavina Manalan

Candidate number: 00396623

Theme: Metabolic disorders and screening

OPTION LIST

A	Acquired disorders of glycosylation	I	Organic acidurias
B	Amino acid disorders	J	Peroxisomal disorders
C	Carbohydrate disorders	K	Phenylketonuria (PKU)
D	Congenital disorders of glycosylation	L	Porphyrin metabolism disorders
E	Fatty acid oxidation defects	M	Protein metabolism disorders
F	Inorganic acidurias	N	Purine metabolism disorders
G	Lysosomal storage disease	O	Pyrimidine metabolism disorders
H	Mitochondrial disorders	P	Urea cycle disorders

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

1. It is a specific metabolic disorder that is associated with Reye’s syndrome and recurrent episodes of ketoacidotic coma.

2. Many of the intermediates of this disorder have a strange smell and may present with sensorineural deafness and associated diabetes.

3. A 18 year old man feels has a summer bbq with some friends. Later that evening he becomes agitated and confused and he is admitted to A&E with encephalopathy that evening.

4. A decrease Gal-1-PUT and an increase in Gal-1-P is characteristic of what disorder?

5. The screening of this disorder looks for a deficiency in phenylalanine hydroxylase.

ANSWERS

1. I

2. H

3. P

4. C

5. K