Clinical Conditions

Question 1

G6PD deficiency

Inheritance

Answer 1

X linked recessive
Main source of NADPH
Therefore inc Heinz body formation (disulphide bond formation in denatured Hb-Heinz bodies are insoluble aggregates of Hb)-premature haemolysis
Primiquine generates ROS and makes symptoms a lot worse

Question 2

Marasmus

Answer 2

• total energy malnutrition from all food groups
• body broken down fat and muscle so emaciated appearance
• diarrhoea and anaemia, hair thin and dry

Question 3

Kwashiorkor

Answer 3

-adequate energy but no protein intake
-fatty livers as no LDLs around(fat can’t leave liver)
-Oedema due to low albumin levels (osmotic imbalance)
Kwashiokor
Oedemitous
Anorexic
Lethargic
Ascites (oedema within abdominal cavity)

Question 4

What is reseeding syndrome?

Answer 4

Occurs in kwashiorkor

Take too much protein resulting in hyperammonaemia=death…cannot get rid of ammonia quick enough

Question 5

PKU

Inheritance

Answer 5

Autosomal recessive
Lack of phenylalanine hydroxylase
Instead, phenylpyruvate and thus phenylketones are produced
Symptoms:intellectual disability,skeletal and facial abnormalities,retardation,seizure,development delay,microcephaly,hypopigmentation
Leads to phenylketonuria (too much for kidney to reabsorb)

Question 6

Homocystinuria

Inheritance

Answer 6

Autosomal recessive
Lack of cystathionine beta synthase enzyme stops conversion of homocysteine to cysteine
Oxidised to homocystine to be removed by liver
converted to methionine instead.builds up Of homocysteine causes connective tissue (fibrillin) problems, CV and resp problems
Misdiagnosed for marfans (very similar)
TREATMENT:vit B6 to stimulate enzyme OR B12 to convert to methionine

Question 7

What is paracetemol normally conjugated with and what does it conjugate with when overdosed?

Answer 7

Normal:glucoronic acid
OD:NAPQI

Question 8

What is depleted in an attempt to break down NAPQI in a paracetemol overdose and what is the treatment for this?

Answer 8

Glutathione-no defence from ROS

N-acetyl cysteine acts like glutathione until replenished

Question 9

Galactosaemia (classic and non classic)

Inheritance

Answer 9

Autosomal recessive
Classic-galactokinase deficiency-stops galactose from going to galactose 1 phosphate
-some galactose transfers to galactitol using aldose reductase and using up NADPH.
Disulphide bridges form in lens of eye (cataracts)

Non classic-GOUT (galactose 1 p uridyl transferase) deficiency-build up of galactose 1 phosphate-toxic in hepatocytes-death