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 6 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...
A newborn girl is brought into the genetics department for a karyotype study. She was born...
A newborn girl is brought into the genetics department for a
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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
nasal bridge and epicanthal folds;; single transverse palmar crease
with widely split fixed S2 (due to an atrial septal defect).
Karyotype reveals 47, XX; trisomy 21...
A newborn girl is brought into the genetics department for a karyotype study. She was born...
A newborn girl is brought into the genetics department for a
karyotype study. She was born of a 50y/o mother who feels that her
child is developmentally retarded with characteristics
"mongoloiddge" facial features; her pregnancy was uneventful. On
physical examination, the child presents with generalized
hypotonia; flattened face and low set ears; macroglossia; flattened
nasal bridge and epicanthal folds;; single transverse palmar crease
with widely split fixed S2 (due to an atrial septal defect).
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Volunteers who had developed a cold within the previous 24 hours were randomly assigned to take...
Volunteers who had developed a cold within the previous 24
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Twenty-five participants took zinc lozenges and 23 participants
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the zinc lozenge group was 4.5 days with a standard deviation of
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2 to 3 hours until their cold symptoms were gone. Twenty-five
participants took zinc lozenges, and 23 participants took placebo
lozenges. The mean overall duration (in days) of symptoms for the
zinc lozenges group was 4.5 days, and the standard deviation of
overall duration of symptoms was 1.6 days. For the placebo group,
the mean overall duration of...
people who had developed a cold within the previous 24 hours were randomized to take either...
people who had developed a cold within the previous 24 hours
were randomized to take either medicine A and medicine B every 5 to
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and 25 participants took medicine B.The mean overall duration of
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(a)What is the parameter of interest? Write it in words and use
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Volunteers who had developed a cold within the previous 24 hours were randomized to take either...
Volunteers who had developed a cold within the previous 24 hours
were randomized to take either zinc or placebo lozenges every 2 to
3 hours until their cold symptoms were gone. Twenty-five
participants took zinc lozenges, and 23 participants took placebo
lozenges. The mean overall duration of symptoms for the zinc
lozenge group was 4.5 days, and the standard deviation of overall
duration of symptoms was 1.1 days. For the placebo group, the mean
overall duration of symptoms was 8.6...
2. A newborn dies hours after birth due to a severe and inoperable heart defect. The...
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At birth, Baby Joe appeared to be a normal, healthy baby boy. Both of his parents...
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Joe’s pediatrician recommended placing tubes in Joe’s ears to
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