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Question 1

Familial hypercholesteraemia
(type II)

Answer 1

Primary Hypercholesteraemia
Dominant: LDLR, apoB, PCSK9
Recessive: LDLRAP1

Question 2

Polygenic hypercholesteraemia

Answer 2

Primary Hypercholesteraemia

Many mutations: NPC1C&, HMGCR, CYP7A1

Question 3

Familial hyperα-lipoproteinaemia

Answer 3

Primary Hypercholesteraemia
CEPT deficiency
(increased HDLs)

Question 4

Phytosterolaemia

Answer 4

Primary Hypercholesteraemia

ABC G5 & G8

Question 5

Primary Hypercholesteraemia Types

Answer 5

Primary Hypercholesteraemia

1. Familial hypercholesteraemia (type II)
2. Polygenic hypercholesteraemia
3. Familial hyperα-lipoproteinaemia
4. Phytosterolaemia

Question 6

Primary Hypertriglyceridaemia Types

Answer 6

Primary Hypertriglyceridaemia

1. Familial Type 1
2. Familial Type 4
3. Familial Type 5

Question 7

Primary Hypertriglyceridaemia Familial Type I

Answer 7

Lipoprotein lipase or apoC II deficency.

Clearance problem, build up of chylomicrons as are unable to clear.

Question 8

Primary Hypertriglyceridaemia Familial Type V

Answer 8

apoA V def (sometimes)

Mixed ↑ of chylomicrons and VLDLs.

Question 9

Primary Hypertriglyceridaemia Familial Type IV

Answer 9

↑synthesis of TG
No chylomicrons
↑ VLDLs.

Question 10

Mixed Hyperlipdiaemia Types

Answer 10

Primary:

1. Familial Combined Hyperlipidaemia
2. Familial Hepatic Lipase Deficiency
3. Familial dysβlipoproteinaemia

Secondary:
Hormonal, metabolic and toxic factors

Question 11

Hypolipidaemia Types

Answer 11

1. Aβ-lipoproteinaemia
2. Hypoβ-lipoproteinaemia
3. Tangier Disease
4. Hypoα-lipoproteinaemia

Question 12

Aβ-lipoproteinaemia

Answer 12

Hypolipidaemia
MPT deficiency (recessive)

Question 13

Hypoβ-lipoproteinaemia

Answer 13

Hypolipidaemia

Truncated apoβ gene (dominant)

Question 14

Tangier Disease

Answer 14

Hypolipidaemia

ABC A1 mutation –> HDL deficiency

Question 15

Hypoα-lipoproteinaemia

Answer 15

Hypolipidaemia

ApoA-1 Mutation

Question 16

Metabolic diseases in the heel prick test

Answer 16

. These are:
phenylketonuria (PKU)
medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease (MSUD)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
homocystinuria (pyridoxine unresponsive) (HCU)

Others: CF, Sickle Cell, Hypothyroidism

Question 17

What is increased in CF in neonates

Answer 17

Immune reactive trypsin

Question 18

How do you test for MCADD

Answer 18

Blood spot test.

Look for acylcarnitine levels by tandem mass spectrometry

Question 19

Px of homocysteinuria (lacks CBS)

Answer 19

Lens discolouration
Mental retardation
Thromboembolism

Abnormal methionine metabolism.

Tx: betanine (folate dependant).
Converts homocysteine back to methionine.

Question 20

MCADD

Answer 20

Missing medium chain acyl coA hence canning break down fatty acids to make Acetyl CoA ( for TCA cycle or ketogenesis for the brain).

Build up if acylcarnitine levels.

Question 21

Increased Ammonia causes

Answer 21

1. Urea cycle defects.
2. Lysinic protein intolerance.
3. HHH
4. Citrullinaemia Type II
5. OTC Deficiency (x linked)

Question 22

Hallmarks of organic acidurias eg. isovaleric acidaemia

Answer 22

1. Hyperammoniaemia
2. Metabolic acidosis (otherwise usually resp alkalosis).
3. Cheesy/ sweaty smell
4. Big anion gap(not lactate).

Question 23

What is Reye Syndrome

Answer 23

Recurrent episodes of ketoacidotic coma, cerebral abnormalities.

Vomiting, lethargy, seizures, confusions, respiratory arrest

Triggers: salicylate, antoemtics and valporate

Question 24

Gram positive diplococci

Answer 24

S. Pneumoniae

Question 25

Positive cold agglutins

Answer 25

Mycoplasma