A newborn girl appeared normal at birth, but within 24 hours shedeveloped lethargy, hypothermia, and apnea. The attending physiciansuspects a metabolic disorder and orders a panel of labs.
Which diagnostic would be the best to distinguishbetween a urea cycle disorder and a disorder in ​β -oxidation? WHYIS THE OTHER ONES NOT AN OPTION
1. Blood glucose
2. Urinary acids
3. Serum fatty acids
4. Plasma glutamine
A full blood work up was ordered for this female and the data ispresented below.
The initial blood ammonia level was elevated at 314 ug/dl(normal range = 17–80) and rapidly rose to 600 ug/dl.
The urine orotic acid level was markedly elevated at 473 umol/Lcreatinine (nl = 0–3). The plasma citrulline level was normal at 10uM/L (nl = 12–55).
In this patient where orotic acid levels are elevated,list one urea cycle enzyme that is ​most likely deficientand one urea cycle enzyme that is ​least likely​​ to be impaired.EXPLAIN WHY NOT OTHER ENZYMES
