Pathology EMQ template

 

YourName: Kirsten Kolle

 

Theme: metabolic disorders

 

OPTION LIST

 

A	Phenylketonuria (PKU)	I	galactose-1-phosphate uridyl transferase deficiency
B	Phenylalanine hydroxylase deficiency	J	Defective oxidative phosphorylation
C	Long chain acyl CoA DH deficiency	K	Lysosomal storage disease
D	Fatty acid oxidation disorder	L	Peroxisomal disease
E	Glutaric aciduria type I	M	Congenital disorder of glycosylation syndrome Ia
F	Isovaleric acidaemia	N	Congenital disorder of glycosylation syndrome Ib
G	Maple syrup urine disease	O	Barth syndrome
H	Homocystinuria	P

 

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. Conjugated hyperbilirubinaemia, hepatomegaly, sepsis and hypoglycaemia in a neonate

 

 

2. Associated with abnormal cardiolipin, a cause of stillbirth, exclusively found in males

 

 

3. Ataxia, seizures, retinopathy, coagulopathy and liver fibrosis. Caused by a defect in phosphomannose isomerase. Treated with mannose supplements.

 

 

4. Infants with this disorder often appear healthy. If untreated, high risk of myocardial infarction before 30 years of age. Treated with low-protein diet and high doses of vitamin B6.

 

 

5. An autosomal recessive disorder, causing mental retardation if untreated. Treatable with a life-long diet avoiding certain foods, including aspartamine.

 

 

 

Right answers: 1I,   2O,   3N,   4H,    5A