Lipoprotein Metabolism, Metabolic Disorders, Hyper/Hypo Glycaemia, Flashcards Preview

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Flashcards in Lipoprotein Metabolism, Metabolic Disorders, Hyper/Hypo Glycaemia, Deck (44)
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1

Lipoprotein Metabolism

page 76 in path guide has a great flow chart for this, not sure how to put photos on here so feel free to add if you would like. i will put it into words for anyone who wants it though...

fats in diet are absorbed in the small intestine to form Chylomicrons - converted via LPL to Remnants -> Liver where they are converted to vLDLs. vLDLsconvert to LDLs via LPL and HPL or go to adipose tissue and then back to the liver via FFA and albumin

2

Lipoproteins in order of density

Chylomicron
FFA
vLDL
IDL
LDL
HDL

3

PCSK9...what does it do?

ProProtein Convertase Subtilisin/Kexin type 9
-Binds LDLReceptor (which breaks down LDL) and promotes its degradation
-Loss of function mutation of PCSK9 -> low LDL levels
Novel form of LDL-lowering therapy is Anti-PCSK9 MAb

4

Fat soluble Vitamins

A - retinol
D - Chole-calciferol
E - Tocopherol
K - Phytomenadione

5

Fat soluble Vitamins - A - Retinol
- Deficiency?
- Excess?
- Test?

- Colour blindness
- Exfoliation, Hepatitis
- Serum

6

Fat soluble Vitamins - D - Chole-calciferol
- Deficiency?
- Excess?
- Test?

- Osteomalacia/ Rickets
- Hypercalaemia
- Serum

7

Fat soluble Vitamins - E - Tocopherol
- Deficiency?
- Test?

- Anaemia/ Neuropathy, ?malignancy/IHD
- Serum

8

Fat soluble Vitamins - K - Phytomenadione
- Deficiency?
- Test?

- Defective clotting
-PTT

9

Water soluble vitamins

B1 - Thiamin
B2 - Riboflavin
B6 - Pyridoxine
B12 - Cobalamin
C - ascorbate
Folate
B3 Niacin

10

Water soluble vitamins - B1 - Thiamin
- Deficiency?
- Test?

-Beri-Beri, Neuropathy, Wernicke Syndrome
-RBC tranketolase

11

Water soluble vitamins - B2 - Riboflavin
- Deficiency ?
- Test?

- Glossitis
- RBC glutathione reductase

12

Water soluble vitamins - B6 - Pyridoxine
- Deficiency?
- Excess?
- Test?

-Dermatitis/ anaemia
-Neuropathy
-RBC AST activation

13

Water soluble vitamins - B12 - Cobalamin
- Deficiency?
- Test?

-Pernicious anaemia
-Serum B12

14

Water soluble vitamins - C - ascorbate
- Deficiency?
- Excess?
- Test?

-Scurvy
-Renal Stones
-Plasma

15

Water soluble vitamins - Folate
- Deficiency?
- Test?

-Megaloblastic anaemia, Neural tube defect
-RBC folate

16

Water soluble vitamins - B3 Niacin
- Deficiency?

-Pellagra - 3Ds ...
...Dementia
...Dermatitis
...Diarrhoea

17

Trace elements - Iron
- Deficiency?
- Excess?
- Test?

- Hypochromic anaemia
- Haemochromatosis
- FBC, Fe, Ferritin

18

Trace elements - Iodine
- Deficiency?
- Test?

-Goitre, Hypothyroid
-TFT

19

Trace elements - Zinc
- Deficiency?

- Dermatitis

20

Trace elements - Copper
- Deficiency?
- Excess?
- Test?

-Anaemia
- Wilson's Disease
- Cu, Caeroplasmin

21

Trace elements - Fluoride
- Deficiency?
- Excess?

- Dental caries
- Flourosis

22

Current UK screening of Metabolic Disorders and the tests carried out

1) Phenylketonuria - Guthrie Test
2) Congenital hypothyroidism - Test TSH levels
3) Cystic Fibrosis - Test immune reactive trypsin, if + = DNA mutation detection
4) Sickle cell disease
5) Medium Chain AcylCoA dehydrogenase Deficiency - test Acylcarnitine levels by tandem Mass Spectrometry

23

Urea Cycle Disorders
- Inheritance
- Red Flags
- Treatment

- Autosomal recessive ( except for Ornithine Transcarbamylase Deficiency - X linked)
- Red flags
- Vomiting without diarrhoea
- Hyperammonia and Resp Alkalosis
- Encephalopathy
- Change in diet
- Remove ammonia. Reduce ammonia production

24

Organic Acidurias - what is it?

A group of metabolic disoders that disrupt amino acid metabolism, particularly branched amino acids (leucine, isoleucine and valine)

25

Organic Acidurias - Neonates - presentation and Bloods

Presentation
-Unusual odours, lethargy, feeding problems
- Truncal hypotonia/Limb hypertonia, myoclonic jerks
Bloods
- Hyperammonia with metabolic acidosis and high anion gap (not lactate)
- Hypocalcaemia, Neutropenia, Thrombopenia, Pancytopenia

26

Organic Acidurias - Chronic Intermittent forms of fatty acid oxidation. Present with Recurrent episodes of ...

Ketoacidotic coma
Cerebral abnormalities
Reye Syndrome
- Vomiting, lethargy, confusion, seizures, decerebration, resp arrest
- Triggers = salicylates, antiemetics, valproates

27

Galactosaemia - what is it?

Glucose-1-phosphate uridylyltransferase deficiency (GAL-1-PUT) is the most severe of the 3 unknown disorders. Raised Gal-1-PUT causes liver and kidney disease

28

Galactosaemia - Presentation

Vomiting, diarrhoea, conjugated hyperbilirubinaemia, hepatomagaly, hypoglycaemia and sepsis

29

Galactosaemia - Lab investigations

Urine reducing substances, Red cell GAL-1-PUT

30

Glycogen storage disorders - what is it? due to? leads to?

A result of defects in glycogen synthesis or breakdown. Commonly have muscular, liver and other consequences.

11 types altogether, all due to enzyme deficiencies. GSD type 1 (von Gierke's disease) is glucose-6-phosphatase deficiency

Leads not only to excessive glycogen storage but also prevents glucose export from gluconeogenetic organs