A Flashcards
GLYCOLYSIS CLINICAL APPLICATION
Glycolysis rate up to 200x greater in cancer;
PET scan after intake of FDG (radioactive hexokinase substrate) used to detect cancer
Low Protein intake, sufficient calorie intake.
KWASHIORKOR
Energy deficiency malnutrition
MARASMUS
Not enough fibre VS enough fibre.
Where is it found
Constipation, bowel cancer VS cholesterol reduction, reduced risk of diabetes
Cereal foods, bread, beans, fruit and veg
vit A deficiency
Xerophthalmia: various eye problems.
Vit D deficiency
Rickets, Poor bone development (bone deformities, classically bow legs)
Vit E deficiency
Neurological abnormalities (vision, motor effects)
Vit K deficiency
Defective blood clotting (VKDB(leeding))
B1 (Thiamin) deficiency
Beriberi- neurological problems
(Used in link reaction)
B12 deficiency
and Causes
Macrocytic anaemia
Dietary deficiency,
Pernicious anaemia ( lack intrinsic factor, replaces haptocorrin)
Diseased ileum (crohns etc.)
Chemical inactivation eg frequent anaesthetic gas
Parasite
Chelation of intrinsic factor by drugs
Fructokinase missing
Essential fructosuria, fructose in urine, no clinical signs
Aldolase missing
Fructose intolerance, f1p accumulates in liver, leading to liver damage, managed by removing fructose and sucrose from diet
G6PDH deficiency
Can’t go through pentose phosphate pathway, this stops replenishment of NADPH, an important deoxidant. Leads to Heinz bodies and other oxidative damage. Because GSH (glutathione) can be replenished.
Deficiency in phenylalanine hydroxylase
PKU (phenylketonuria),
Autosomal recessive genetic, accumulation of phenylalanine in tissue, plasma and urine. Phenylketones built up (phenylacetate and phenyllactate). Gives musty smell in sweat and urine. Has negative effect on brain leading to developmental problems and seizures.
Cystathione beta-synthase deficiency
Homocystinuria, problem breaking down methionine, buildup of homocysteine, an intermediate, can be found in urine. Leads to connective tissue and neurological problems. Low methionine diet required, eg avoid milk, eggs, fish, cheese, meat.
Vit b6
Makes amino transferase cofactor
Galactosaemia
Deficiency of uridyl transferase or galactokinase
Leads to much higher concentrations of galactose or both galactose and galactose phosphate. Leads to oxidative stress as leads to other metabolic pathways such as to Galactitol. Causes cataracts in eyes, oxidation of thiolgroups.
Formation of atherosclerotic plaque
LDL have long half life, this makes them more susceptible to oxidative damage. Oxidative damage causes them to be engulfed by foam cells, a type of macrophage. This leads to formation of a fatty streakbuildup in intima of vessels. This atherosclerosis can rupture, causing thrombosis in arteries. Leading to strokes or myocardial infarction.
What is ideal total cholesterol
What is ideal non hdl cholesterol
What is ideal ldl cholesterol
Ideal hdl cholesterol
Cholesterol: HDL-C ratio
Triglycerides
=< 5 mmol
=< 4 mmol
=< 3 mmol
> 1 mmol men > 1.2 mmol women
Ratio above 6 high risk, lower the better
<2mmol in fasted sample
How do statins work
They inhibit HMG-COA reductase, stopping formation of mevalonate, which later forms cholesterol.
Myasthenia Gravis
Autoimmune disease
Antibodies block act receptors
Invaginations reduced
Ptosis- drooping eyelid
Muscle atrophy mechanism
DISUSE- bed rest, sedentary behaviour, age, etc
SURGERY- denervation of muscle
DISEASE- muscular dystrophies
Duchene muscular dystrophy
Belly sticks out bad balance shoulders back arms behind
X linked recessive
Most common dystrophy
Mutation of dystrophin gene
Rhabdomyolysis
Creatine kinase and myoglobin levels extremely high in blood
Sodium potassium phosphate uric acid also released
Adipose tissue replaces muscle
Troponin assays
Cardiac muscle damage indicator (eg MI)
Botulism toxin and Botox
Clostridium botulinum produces toxin, binds to ach receptors so muscles don’t contract
Organophosphate poisoning
Inhibits ach esterase, which break down ach, stopping signal. Therefore stops relaxation
Malignant hyperthermia
Anaesthetics- succinylcholine
Autosomal dominant inheritance - ryR1 gene
Males> females
Massive contractile fasciculation, muscle rigidity leading to excessive heat and metabolic acidosis
Hyperkalemia
Follate deficiency and causes
Macrocytic megaloblastic Anaemia and symptoms
Muscle weakness
Depression
Diarrhoea reduced taste
Numbness and tingling in feet and hands
Poor diet
Increased require,ents (pregnancy increased erythropoisis severe skin disease)
Duodenum and jejunum disease eg coeliac and crohns
Alcoholism
Drugs
Liver disease or heart failure
Osteogenesis imperfecta
(Brittle bone disease)
Mutation of COL1A gene
Incorrect collagen 1 fibres
Blue Sclera
Weak brittle bones
Flat or arched feet
Hearing loss
Shortened height
Rickets/ osteomalacia
Vit D deficiency
Poor calcium mobilisation- ineffective mineralisation.
Weakened bone development
Soft bones
Bowed legs.
Surgery, stomach and intestine, kidney disease, no sunlight, certain drugs , eg phenytoin
Osteoporosis
Loss of bone density,
Primary:
Type 1-
Post menopause - loss of oestrogen,
Increase osteoclast number
Smoking increased incidence
Type 2-
Older men and women
Loss of osteoblast function
Loss of both oestrogen and androgen
Secondary
Drug therapy- corticosteroids
Malnutrition, immobilisation, weightlessness
Metabolic bone diseases eg. Hyperparathyroidism, metastatic cancers
Achondroplasia
Inherited mutation FGF3 receptor gene
FGF promotes collagen formation from cartilage.
Endochondrial ossification affected, intramembranous ossification not affected.
Therefore long bones can’t lengthen, short stature regular head and torso
Cushing’s disease
ACTH- secreting pituitary tumour
High ACTH and Cortisol,
Low dose Dex suppression test, ACTH and Cortisol still high
High dose suppression test, ACTH and Cortisol low
Surgery/ radiotherapy,
Cushing’s syndrome- Adrenal tumour
Cortisol - secreting adrenal adenoma
Low ACTH and high Cortisol,
Dex suppression test, Doesn’t affect cortisol
Surgery/ radiotherapy,
