What type of disease is homocystinuria?
Autosomal recessive
Which enzyme is most invovled in homocystinuria? A) Betaine B) Cobalamin C) Cystathionine beta-synthase D) MTHF reductase
C) Cystathionine beta-synthase
Which amino acid gets converted into homocystinuria?
Methionine
What is the metabolic error in phenylketonuria?
Phenylalanine cannot be broken down –> builds in blood and brain –> brain damage
GI tract reabsorption:
CO2 + H2O –> H+ + HCO3-
In which organ is the H+ excreted?
Stomach
GI tract reabsorption:
CO2 + H2O –> H+ + HCO3-
In which organ is the HCO3- excreted?
Duodenum
What important molecule reclaimed in the kidneys that plays a role in acid/base balance?
Bicarbonate
Following which 3 increases does the O2 haemoglobin dissociation curve shift? Which direction does it shift?
Increased 2,3-DGP
H+
Temperature
Shifts RIGHT
What changes occur in CO2, O2 and H+ during:
Respiratory alkalosis?
Low CO2
Low H+
High O2
What changes occur in CO2, O2 and H+ during:
Respiratory acidosis?
High CO2
High H+
Low O2
What changes occur in CO2, O2 and H+ during:
Metabolic alkalosis?
Low H+
High CO2
Low O2
What changes occur in CO2, O2 and H+ during:
Metabolic acidosis?
High H+
Low CO2
High O2
What is the name of a benign tumour of non-glandular
epithelium?
Pappiloma
What is the name of a benign tumour of glandular
epithelium?
Adenoma
Defects of which process produces energy deficiency?
Fatty acid oxidation
Androgen insensitivity syndrome results in what presentation?
Genetically male but healthy female phenotype
- absent pubic hair
- ambiguous genitalia
- amenrrhoea
- infertility
1) Distributive shock
2) Hypovolaemic shock
3) Cardiogenic shock
A) Fluid loss
B) Cardiac pump failure
C) Severe vasodilation
Distributive - severe vasodilation
Hypovolaemic - fluid loss
Cardiogenic - cardiac pump failure
What are the 4 types of distributive shock?
Septic Shock
Anaphylactic Shock
Neurogenic Shock
Toxic Shock Syndrome
Hyponatraemia and a thirsty patient suggests what problem?
SIADH
Hyponatraemia and a dry (not thirsty) patient suggests what problem?
Diuretics
Is alkalosis a cause of hyperkalaemia or hypokalaemia?
Hypokalaemia
Is acidosis a cause of hyperkalaemia or hypokalaemia?
Hyperkalaemia
How do barbiturates work to increase cellular activity?
Anti-depressants - work by increasing P450 enzyme activity so other drugs get metabolised quickly
Are malignant or benign tumours usually well differentiated?
Benign (malignant vary from anaplastic to well differentiated)
