Question

How common is urea cycle disorder?

Answer 1

The occurrence of urea cycle disorder is low and is observed only in 1 in 35000 babies.

Urea cycle disorder:

1. It is an inborn metabolic disorder that leads to defects in enzymes involved in the removal of ammonia from the blood.
2. Newborns diagnosed with this disorder become severely ill within the first 36-48 hours of birth.
3. Affected infants develop cerebral oedema and neurological problems. This leads to coma and even death.