MCBG

Question 1

Hyperlactaemia

Answer 1

Elevated plasma lactate concentration 2-5mM
Below renal threshold
No change in blood pH

Question 2

Lactic Acidosis

Answer 2

Elevated plasma lactate concentration, above 5mM
Above renal threshold
Blood pH lowered
Acidic urine
Diagnosed by arterial blood sample
Symptoms: nausea, vomiting, generalised muscle weakness, and laboured and deep breathing
Treat underlying cause

Question 3

Galactosemia

Answer 3

Inability to utilise galactose
galctokinase deficiency (rare)- galactose accumulates
Transferase deficiency (common)- galactose and galactose-1-P accumulates
Galactose forms Galactitol by aldose reductase
Symptoms: cataracts, liver, kidney and brain damage
Treatment: avoid lactose in diet

Question 4

Glucose-6-phosphate dehydrogenase deficiency

Answer 4

Too little G6PDH

inherited

Question 5

Beta-thalassaemia

Answer 5

decreased or absent beta globin chain production in haemoglobin
alpha chains unable to form stable tetramers
impaired oxygen delivery
symptoms show after birth : anaemia and excessive iron

Question 6

alpha-thalassaemia

Answer 6

decreased or absent alpha chain production
different levels of diversity due to multiple copies of alpha chains present
beta chains can form stable tetramers with increased affinity for oxygen
symptoms after birth: anaemia and excessive blood iron

Question 7

sickle cell anaemia

Answer 7

inherited- autosomal recessive
mutation of glutamate to valine in beta globin chain (HbS)
sticky hydrophobic pocket formed by valine allows deoxygenated HbS to polymerise making cell more rigid and sickle
cells are more prone to lyse
symptoms: anaemia, painful episodes
treatment: symptoms management and rarely bone marrow transplant

Question 8

Cyanide and carbon monoxide poisoning

Answer 8

inhibition of electron transport leading to block flow of electrons and no electron transport therefore no proton motor force and no oxidative phosphorylation
lethal
symptoms: headache, dizziness, tachycardia, loss of consciousness
treatment: hyperbaric oxygen and/or cyanide antidote kit

Question 9

Marasmus

Answer 9

symptoms: chronic diarrhoea, very skinny and withered appearance, stunted growth

caused by a mixture of dietary deficiencies but mainly lack of energy
treatment: re-feeding at 5-10 kcal/kg/day gradually over 1 week

Question 10

Kwashiorkor

Answer 10

symptoms: swollen abdomen, oedematous limbs

dietary protein deficiency leading to low albumin and energy deficiency
treatment: re-feeding at 5-10 kcal/kg/day gradually over 1 week

Question 11

Down’s syndrome

Answer 11

aneuploidy disease
Trisomy 21
47,+21
caused by either mosaicism or Robertsonian translocation

Question 12

Turner syndrome

Answer 12

aneuploidy disease
monosomy of sex chromosomes
45, X
symptoms: varied can include lymphedema at birth

Question 13

Ehlers-Danlos Syndrome

Answer 13

mutation in collagen type C or lysyl oxidase deficiency
group of collagen disorders
very stretchy skin