Chem Path

Question 1

1. A 5-year old boy presents to his GP with his mother after being found to have abnormal LFTs. On examination, he has a large fontanelle and a dysmorphic face. As a baby, he had jaundice and suffered from several seizures but the Drs didn’t work out the cause. After calling the lab, the GP discovers they want to test for Very Long Chain Fatty Acids
2. Urea Cycle Disorder
3. Organic Aciduria
4. Galactosaemia
5. Von Gierke’s disease
6. Kearns Sayre disease
7. Barth disease
8. Hurler’s disease
9. Peroxismal disorder

Answer 1

8. Peroxismal disorder

Question 2

2. A 3 month old girl comes to A&E with her hysterical dad as she is fitting. After stabilising the girl, blood results shows hypoglycaemia, hyperlipidaemia, hyperuricaemia and neutropaenia. After more investigations, she is found to have glucose-6 phosphatase deficiency.
3. Urea Cycle Disorder
4. Organic Aciduria
5. Galactosaemia
6. Von Gierke’s disease
7. Kearns Sayre disease
8. Barth disease
9. Hurler’s disease
10. Peroxismal disorder

Answer 2

4. Von Gierke’s disease

Question 3

3. A 6-month old baby boy is brought in to his GP because his mum has noticed that he ugly. The GP agrees that he ugly and a blood film shows Reilly bodies in his lymphocytes. He also has mucopolysaccharides in his urine and is treated with Laronidase
4. Urea Cycle Disorder
5. Organic Aciduria
6. Galactosaemia
7. Von Gierke’s disease
8. Kearns Sayre disease
9. Barth disease
10. Hurler’s disease
11. Peroxismal disorder

Answer 3

7. Hurler’s disease

Question 4

4. A 15-monther is found to have an abnormal gait and his parents complain that he doesn’t respond to them. On examination, he has retinopathy and Chronic Progressive External Ophthalmoplegia and investigations show raised CSF protein.
5. Urea Cycle Disorder
6. Organic Aciduria
7. Galactosaemia
8. Von Gierke’s disease
9. Kearns Sayre disease
10. Barth disease
11. Hurler’s disease
12. Peroxismal disorder

Answer 4

5. Kearns Sayre disease

Question 5

5. Mum complains that her baby smells. After stifling her sniggers, the GP agrees that the baby does smell. After taking a urine sample, the GP notices it smells cheesy. The mum also mentions that she has had problems feeding and that her baby is floppy.
6. Urea Cycle Disorder
7. Organic Aciduria
8. Galactosaemia
9. Von Gierke’s disease
10. Kearns Sayre disease
11. Barth disease
12. Hurler’s disease
13. Peroxismal disorder

Answer 5

2. Organic Aciduria

Question 6

1. Deficiency in this leads to a triad of dementia, dermatitis and diarrhoea
2. Vit B2
3. Vit B3
4. Vit B6
5. Marasmus
6. Vit C
7. Zinc
8. Iodine
9. Kwashiorkor

Answer 6

2. Vit B3

Question 7

2. Vitamin often given with Isoniazid to help with peripheral neuropathy
3. Vit B2
4. Vit B3
5. Vit B6
6. Marasmus
7. Vit C
8. Zinc
9. Iodine
10. Kwashiorkor

Answer 7

3. Vit B6

Question 8

3. A Spanish girl attends A&E with severe, intermittent colicky flank pain. She says that she works on a farm and spends most of her day eating the fruit that she is supposed to be picking. She has an excess of this.
4. Vit B2
5. Vit B3
6. Vit B6
7. Marasmus
8. Vit C
9. Zinc
10. Iodine
11. Kwashiorkor

Answer 8

5. Vit C

Question 9

4. 2 year old girl from Ethiopia is seen by one of those do-gooders at a rural health clinic. She is clearly unwell, lethargic, displays hepatomegaly and has some ulcers as well as obvious swelling all over her body.
5. Vit B2
6. Vit B3
7. Vit B6
8. Marasmus
9. Vit C
10. Zinc
11. Iodine
12. Kwashiorkor

Answer 9

8. Kwashiorkor

Question 10

5. Deficiency in this causes a goitre.
6. Vit B2
7. Vit B3
8. Vit B6
9. Marasmus
10. Vit C
11. Zinc
12. Iodine
13. Kwashiorkor

Answer 10

7. Iodine

Question 11

1. Patient has a mutation in ApoE2
2. Familial Hypercholesterolemia
3. Tangier disease
4. Familial hyper-alpha-lipoproteinaemia
5. Phytosterolaemia
6. Familial T4 hypertriglyceridaemia
7. Familial T5 hypertriglyceridaemia
8. Familial T1 hypertriglyceridaemia
9. Familial dysBeta-lipoproteinaemia (T3)

Answer 11

8. Familial dysBeta-lipoproteinaemia (T3)

Question 12

2. Patient has excessive production of triglycerides
3. Familial Hypercholesterolemia
4. Tangier disease
5. Familial hyper-alpha-lipoproteinaemia
6. Phytosterolaemia
7. Familial T4 hypertriglyceridaemia
8. Familial T5 hypertriglyceridaemia
9. Familial T1 hypertriglyceridaemia
10. Familial dysBeta-lipoproteinaemia (T3)

Answer 12

5. Familial T4 hypertriglyceridaemia

Question 13

3. Patient has CETP deficiency
4. Familial Hypercholesterolemia
5. Tangier disease
6. Familial hyper-alpha-lipoproteinaemia
7. Phytosterolaemia
8. Familial T4 hypertriglyceridaemia
9. Familial T5 hypertriglyceridaemia
10. Familial T1 hypertriglyceridaemia
11. Familial dysBeta-lipoproteinaemia (T3)

Answer 13

3. Familial hyper-alpha-lipoproteinaemia

Question 14

4. Patient has ATP-Binding Casette (ABC) G5 mutation
5. Familial Hypercholesterolemia
6. Tangier disease
7. Familial hyper-alpha-lipoproteinaemia
8. Phytosterolaemia
9. Familial T4 hypertriglyceridaemia
10. Familial T5 hypertriglyceridaemia
11. Familial T1 hypertriglyceridaemia
12. Familial dysBeta-lipoproteinaemia (T3)

Answer 14

4. Phytosterolaemia

Question 15

5. Patient has HDL deficiency
6. Familial Hypercholesterolemia
7. Tangier disease
8. Familial hyper-alpha-lipoproteinaemia
9. Phytosterolaemia
10. Familial T4 hypertriglyceridaemia
11. Familial T5 hypertriglyceridaemia
12. Familial T1 hypertriglyceridaemia
13. Familial dysBeta-lipoproteinaemia (T3)

Answer 15

2. Tangier disease

Question 16

1. Patient has skin lesions + neurovisceral symptoms. She is found to have Coproporphyrin Oxidase deficiency
2. X-linked sideroblastic anaemia
3. ALA dehydratase deficiency
4. Acute Intermittent Porphyria
5. Hereditary coproporphyria
6. Variegate porphyria
7. Congenital erythropoietic porphyria
8. Erythropoietic protoporphyria
9. Porphyria Cutanea Tarda

Answer 16

4. Hereditary coproporphyria

Question 17

2. Patient with onocholysis, skin blistering + scarring with hypertrichosis. Found to have increased urinary uroporphyrins + ferritin. Goes on to get liver cancer
3. X-linked sideroblastic anaemia
4. ALA dehydratase deficiency
5. Acute Intermittent Porphyria
6. Hereditary coproporphyria
7. Variegate porphyria
8. Congenital erythropoietic porphyria
9. Erythropoietic protoporphyria
10. Porphyria Cutanea Tarda

Answer 17

8. Porphyria Cutanea Tarda

Question 18

3. Patient comes in saying that when he sat on the toilet, heaven opened and God told him to vote Leave on June 23rd. Psychiatrist thought it odd and also noticed from his drug chart that he had been prescribed steroids recently. Investigations show ALA + PBG in the urine and is successfully treated with IV carbs + haem arginate
4. X-linked sideroblastic anaemia
5. ALA dehydratase deficiency
6. Acute Intermittent Porphyria
7. Hereditary coproporphyria
8. Variegate porphyria
9. Congenital erythropoietic porphyria
10. Erythropoietic protoporphyria
11. Porphyria Cutanea Tarda

Answer 18

3. Acute Intermittent Porphyria

Question 19

4. Patient has ALA synthase deficiency
5. X-linked sideroblastic anaemia
6. ALA dehydratase deficiency
7. Acute Intermittent Porphyria
8. Hereditary coproporphyria
9. Variegate porphyria
10. Congenital erythropoietic porphyria
11. Erythropoietic protoporphyria
12. Porphyria Cutanea Tarda

Answer 19

1. X-linked sideroblastic anaemia

Question 20

5. Autosomal Recessive condition in patient with burning, itching + oedema after being out in the sun. Shown to have raised RBC prototporphyrin.
6. X-linked sideroblastic anaemia
7. ALA dehydratase deficiency
8. Acute Intermittent Porphyria
9. Hereditary coproporphyria
10. Variegate porphyria
11. Congenital erythropoietic porphyria
12. Erythropoietic protoporphyria
13. Porphyria Cutanea Tarda

Answer 20

6. Congenital erythropoietic porphyria

Question 21

1. All Normal
2. Primary hyperparathyroidism
3. Secondary hyperparathyroidism
4. Tertiary hyperparathyroidism
5. Hypoparathyroidism
6. Rickets/osteomalacia
7. Pagets
8. Osteoporosis

Answer 21

7. Osteoporosis

Question 22

2. Raised ALP only
3. Primary hyperparathyroidism
4. Secondary hyperparathyroidism
5. Tertiary hyperparathyroidism
6. Hypoparathyroidism
7. Rickets/osteomalacia
8. Pagets
9. Osteoporosis

Answer 22

6. Pagets

Question 23

3. Raised PTH, low Ca, low PO4, high ALP, low Vit D
4. Primary hyperparathyroidism
5. Secondary hyperparathyroidism
6. Tertiary hyperparathyroidism
7. Hypoparathyroidism
8. Rickets/osteomalacia
9. Pagets
10. Osteoporosis

Answer 23

5. Rickets/osteomalacia

Question 24

4. Raised PTH, low Ca, high PO4, others normal after a kidney transplant
5. Primary hyperparathyroidism
6. Secondary hyperparathyroidism
7. Tertiary hyperparathyroidism
8. Hypoparathyroidism
9. Rickets/osteomalacia
10. Pagets
11. Osteoporosis

Answer 24

3. Tertiary hyperparathyroidism

Question 25

5. Raised PTH, PO4, ALP and normal Ca 1. Primary hyperparathyroidism 2. Secondary hyperparathyroidism 3. Tertiary hyperparathyroidism 4. Hypoparathyroidism 5. Rickets/osteomalacia 6. Pagets 7. Osteoporosis

Answer 25

2. Secondary hyperparathyroidism