biochem q

[MudPhud20XX]

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An infant, born at 37 weeks' gestation, is admitted to the neonatal intensive care unit because of a spontaneous pneumothorax. Two days later, the pneumothorax resolves and the newborn is transferred to the nursery where he is fed with standard cow's-milk formula. Within 24 hours, the baby vomits all feeds, is tachypneic, and has progressive lethargy.

What is the diagnosis?

 

[RnaPolymerase2]

Necrotizing enterocolitis...it is one of the common diseases of premature or ICU babies ; the Immature and inflammed colon lacks brush border enzyme beta galactosidase so there is no lactose breakdown and there leads to the sequence of events.

 

[MudPhud20XX]

Necrotizing enterocolitis...it is one of the common diseases of premature or ICU babies ; the Immature and inflammed colon lacks brush border enzyme beta galactosidase so there is no lactose breakdown and there leads to the sequence of events.

Thanks for the feedback. What if I told you that there was an inc conc of NH4+ in the serum?

 

[RnaPolymerase2]

Neonate has a defective enzyme in the urea cycle (biochemistry ) like carbomyl phosphate synthetase so can't degrade NH4 to urea. And the ammonia accumulates causing encephalopathy because NH4 is CNS toxic. Hence the vomit and tachypniec.. Any thoughts?

 

[MudPhud20XX]

Neonate has a defective enzyme in the urea cycle (biochemistry ) like carbomyl phosphate synthetase so can't degrade NH4 to urea. And the ammonia accumulates causing encephalopathy because NH4 is CNS toxic. Hence the vomit and tachypniec.. Any thoughts?

excellent!

 

[aspiringmd1015]

must be able to differentiate CPS1 from OTC def and orotic aciduria.

 

[tropocollagen]

Neonate has a defective enzyme in the urea cycle (biochemistry ) like carbomyl phosphate synthetase so can't degrade NH4 to urea. And the ammonia accumulates causing encephalopathy because NH4 is CNS toxic. Hence the vomit and tachypniec.. Any thoughts?

Great to know. Do you mean in general neonates in ICU have defective urea cycle enzymes? I know urea cycle enzyme deficiencies can be due to liver disease or hereditary.

 

[RnaPolymerase2]

I am not aware that neonates in the ICU have urea enzyme deficiency issues ... My answer to the question explained why the neonate encephalopathy occurred..