Question
In: Biology
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
Solutions
gladiator answered 7 months agoRelated Solutions
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? (Please discuss your
rationale for this choice) a. Blood glucose b. Urinary acids c.
Serum fatty acids d. Plasma glutamine
A full blood work up was ordered for this female and...
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A newborn girl is brought into the genetics department for a karyotype study. She was born...
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"mongoloiddge" facial features; her pregnancy was uneventful. On
physical examination, the child presents with generalized
hypotonia; flattened face and low set ears; macroglossia; flattened
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Volunteers who had developed a cold within the previous 24 hours were randomized to take either...
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