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. 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. Discuss the normal mechanisms of ammonia transfer in the body that should be occurring, including

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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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.
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.
Discuss the normal mechanisms of ammonia transfer in the body that should be
occurring, including glutamate dehydrogenase, glutaminase and glutamine synthetase.
Be sure to discuss the role of transamination.

How is nitrogen transport connected to gluconeogenesis in the fasted state?

Further analysis shows urine orotic acid levels were markedly elevated at 473 umol/L
creatinine (nl = 0– 3). The plasma citrulline level was normal at 10 uM/L (nl = 12–55).
In thisindividual, where orotic acid levels are elevated, what urea cycle enzyme is most
likely deficient and what urea cycle enzyme isleast likely to be impaired? (Be sure to
justify your answers).
Which amino acid, if any, becomes essential as a result of this deficiency?

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