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Path - Chem Path > Lipoprotein Metabolism, Metabolic Disorders, Hyper/Hypo Glycaemia, > Flashcards

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

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1
Q

Lipoprotein Metabolism

A

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

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2
Q

Lipoproteins in order of density

A 
Chylomicron 
FFA
vLDL
IDL
LDL
HDL
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3
Q

PCSK9…what does it do?

A

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

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4
Q

Fat soluble Vitamins

A

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

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5
Q

Fat soluble Vitamins - A - Retinol

  • Deficiency?
  • Excess?
  • Test?
A
  • Colour blindness
  • Exfoliation, Hepatitis
  • Serum
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6
Q

Fat soluble Vitamins - D - Chole-calciferol

  • Deficiency?
  • Excess?
  • Test?
A
  • Osteomalacia/ Rickets
  • Hypercalaemia
  • Serum
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7
Q

Fat soluble Vitamins - E - Tocopherol

  • Deficiency?
  • Test?
A
  • Anaemia/ Neuropathy, ?malignancy/IHD

- Serum

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8
Q

Fat soluble Vitamins - K - Phytomenadione

  • Deficiency?
  • Test?
A
  • Defective clotting

- PTT

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9
Q

Water soluble vitamins

A 
B1 - Thiamin
B2 - Riboflavin
B6 - Pyridoxine
B12 - Cobalamin
C - ascorbate
Folate
B3 Niacin
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10
Q

Water soluble vitamins - B1 - Thiamin

  • Deficiency?
  • Test?
A
  • Beri-Beri, Neuropathy, Wernicke Syndrome

- RBC tranketolase

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11
Q

Water soluble vitamins - B2 - Riboflavin

  • Deficiency ?
  • Test?
A
  • Glossitis

- RBC glutathione reductase

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12
Q

Water soluble vitamins - B6 - Pyridoxine

  • Deficiency?
  • Excess?
  • Test?
A
  • Dermatitis/ anaemia
  • Neuropathy
  • RBC AST activation
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13
Q

Water soluble vitamins - B12 - Cobalamin

  • Deficiency?
  • Test?
A
  • Pernicious anaemia

- Serum B12

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14
Q

Water soluble vitamins - C - ascorbate

  • Deficiency?
  • Excess?
  • Test?
A
  • Scurvy
  • Renal Stones
  • Plasma
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15
Q

Water soluble vitamins - Folate

  • Deficiency?
  • Test?
A
  • Megaloblastic anaemia, Neural tube defect

- RBC folate

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16
Q

Water soluble vitamins - B3 Niacin

- Deficiency?

A

-Pellagra - 3Ds …
…Dementia
…Dermatitis
…Diarrhoea

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17
Q

Trace elements - Iron

  • Deficiency?
  • Excess?
  • Test?
A
  • Hypochromic anaemia
  • Haemochromatosis
  • FBC, Fe, Ferritin
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18
Q

Trace elements - Iodine

  • Deficiency?
  • Test?
Study These Flashcards
A
  • Goitre, Hypothyroid

- TFT

19
Q

Trace elements - Zinc

- Deficiency?

20
Q

Trace elements - Copper

  • Deficiency?
  • Excess?
  • Test?
Study These Flashcards
A
  • Anaemia
  • Wilson’s Disease
  • Cu, Caeroplasmin
21
Q

Trace elements - Fluoride

  • Deficiency?
  • Excess?
Study These Flashcards
A
  • Dental caries

- Flourosis

22
Q

Current UK screening of Metabolic Disorders and the tests carried out

Study These Flashcards
A

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
Q

Urea Cycle Disorders

  • Inheritance
  • Red Flags
  • Treatment
Study These Flashcards
A
  • 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
Q

Organic Acidurias - what is it?

Study These Flashcards
A

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
31
Glycogen storage disorders - Presentation
``` Lactic acidosis Convulsions Hypoglycemia (Irritability, pallor, cyanosis, hypotonia, tremors, loss of consciousness and apnea) Hepatomegaly Hyperlipidaemia Hyperuricaemia Neutropaenia ```
32
Lysosomal Storage Disease - what is it? what does it lead to? - Lab invetigations? - Treatment?
- Intraorganelle substrate accumulation leading to organomegaly and consequent dysmorphia and regression. - Lab Investigations - Urine mucopolysaccharides and Oligosaccharides, Leucocyte enzyme activity - Treatment - Bone Marrow transplant, exogenous enzymes
33
Peroxisomal Disorders
Disorder in metabolism of very long chain fatty acids and biosynthesis of complex phospholipids
34
Peroxisomal Disorders in Neonates - symptoms
- Severe muscular hypotonia, seizures - Hepatic dysfunction - mixed hyperbilirubinaemia - Dysmorphic signs
35
Peroxisomal Disorders in Infants - symptoms
- Retinopathy (often leading to early blindness), sensorineural deafness, mental deficiency - Hepatic dysfunction - Large fontanelle, osteopenia of long bones, calcified stippling
36
Peroxisomal Disorders - Lab investigations
Very long chain fatty acids
37
Mitochondrial disorders - what is it?
Defective ATP production leads to multi systemic disease especially affecting organs with a high energy requirement such as brain, muscle, kidney, retina and endocrine organs
38
Mitochondrial disorders - age, disorder, presentations?
- Birth - Barth Disorder - Cardiomyopathy, neutropenia, myopathy - 5-15 years - MELAS Disorder - Mitochondrial Encephalopathy, Lactic acids and stroke-like episodes - 12-30 years - Kearns Sayre Disorder - CPEO, retinopathy, deafness, ataxia
39
Diabetes Mellitus - Diagnosis? - HbA1C? - GTT? - Fasting Glucose?
- 90% T2DM - Diagnosis - made with either typical symptoms plus one off fasting glucose >7, OGTT >11.1 or random glucose >11.1 or made without symptoms via 2 tests - HbA1C >48 - Random/Oral GTT >7.8 but 6.1 but
40
Hypoglycaemia - classification
1) Hyperinsulinaemic hypoglycaemia - Iatrogenic insulin, sulfonylurea excess, insulinoma 2) hypoinsulinaemic hypoglycaemia a) +ve Ketones - Alcohol binge no food, Pituitary insufficiency, Addison's, Liver failure b) -ve Ketones - Non Pancreatic neoplasms - Fibrosarcomata, fibromata
41
Causes of Hypoglycaemia with low insulin and C-peptide in Adults?
Adults - Fasting - Strenuous excerise - Critical Illness - Endo deficiency - Hypopit, adrenal failure - Liver failure - Anorexia Nervosa
42
Causes of Hypoglycaemia with low insulin and C-peptide in Neonates?
Ketones present - Premature - IUGR - Co morbidity Ketones absent -Inherited Metabolic Disorder
43
Causes of Hypoglycaemia with high insulin?
Endogenous Cause - Insulinoma - requires -ve sulphonylurea screen - Quinine - Pentamidine
44
Non-Islet tumour hypoglycaemia
LOW Glucose, insulin, C-peptide, FFA, Ketones Tumours that can cause a paraneoplastic syndrome, secreting Big IGF-1, which binds to IGF-1 and Insulin receptors

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