A newborn girl appeared normal at birth, but within 24 hours she developed lethargy, hypothermia, and...

A newborn girl appeared normal at birth, but within 24 hours she developed lethargy, hypothermia, and apnea. The attending physician suspects a metabolic disorder and orders a panel of labs.

Which diagnostic would be the best to distinguish between a urea cycle disorder and a disorder in β -oxidation? WHY IS 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 is presented 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/L creatinine (nl = 0–3). The plasma citrulline level was normal at 10 uM/L (nl = 12–55).

In this patient where orotic acid levels are elevated, list one urea cycle enzyme that is most likely deficient and one urea cycle enzyme that is least likely to be impaired. EXPLAIN WHY NOT OTHER ENZYMES

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gladiator answered 1 week ago

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