Inheritied metabolic disorders

Question 1

What is G6PD (RF, SX)

Answer 1

Rare deficiency in important enzyme in pentose phosphate pathway (prevent damage to RBC)
X linked recessive - affects only MALES or homozygous females (rare)
RF -10-20% of central africa, mediterannae,, middle east, far east

Sx -
usually heamolytic crisis after a drug/medication/oxidative stress
main ones - antimalarials (quinine), Antibiotics (nitrofurantoin), analgesic (high dose asp), chemicals (fava beans, naphtalene moth balls), infections

in neonates -
neoantal jaundice requiring transfusion
Acute intravascular heamylysis -abdo pain, fever, malais, dark urine, jaundice, pallor

Question 2

Ix and Mx of G6PD

Answer 2

nothing abnormal betweem episodes
during-
raised G6PD during
reduced G6PD after episode
blood film (acute)- heinz body, bite cells
go to is -G6PD NOW and repeat in 1 month

Mx - pt education
teach about heamolyis sx- jaundice, dark urine, pallor
Avoidance of causative factors (chemicals and foods)
In acute heam - supportive fluids and care + folic acid
transfusion rarely needed