Reference no: EM132440035
Case Study
Upon presentation: ??An 18-month-old female arrives by ambulance at the emergency department. The paramedics report that there was no known history of any recent trauma, and no known fever,vomiting, or other unusual behavior. There were no known ingestion or medications in the household. There was no evidence of trauma.
Interview and History:?? At 9 PM the previous night, Ella was described by her mother as appearing more quiet than usual. They had spent the day traveling from the grandmother's house and Ella had been carsick so had not eaten very much during the day. When they got home, Ella had some water and went to bed. Ella slept longer than usual and was found unresponsive by her mother at 9 AM. At this time her mother called 911.
Follow-up tests:
1) Blood glucose: 23 mg/dL (normal range 90 - 125 mg/dL)
2) Repeat blood glucose: 50 mg/dL following administration of glucagon
3) Urinary acids: Markedly elevated levels of glutaric, ethylmalonic, and dicarboxylic acids; ?ketonesabsent
4) Serum free fatty acids: 0.84mmol/L (normal range: ?0.00-0.72 mmol/L)
Treatment: She was transferred to the pediatric intensive care unit and remained comatose for 16 hours. Bloodglucose levels remained stable with a ?continuous infusion of dextrose?. Inpatient treatment consisted primarily of glucose supplementation and supportive care.
Questions:
In this individual, at the time of presentation, what is the relative ratios of the following hormones?
insulin
epinephrine
glucagon
cortisol
Based on the data presented above. This individual most likely has a ?primary deficiency? in which of the following pathways. Please describe why you choose a specific pathway and why you DID NOT choose other pathways.
a. Glycogenolysis
b. Gluconeogenesis
c. Lipolysis
d. Glycogen synthesis
e. Glycolysis
f. Ketogenesis
g. β?-oxidation
h. Protein catabolism
Based on your choice above, would the use of carnitine supplementation be of any benefit to your patient? (Review the role of carnitine)
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What is uric acid
: What is uric acid? And what happens if it accumulates in the body?
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What is the concentration of the protein
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What role do these bonds play in the structure of proteins
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What is proprotein convertase subtilisin
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Pediatric intensive care unit and remained comatose
: She was transferred to the pediatric intensive care unit and remained comatose for 16 hours. Bloodglucose levels remained stable with a ?continuous infusion of
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Discuss the verbal communication skills
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Describe the metabolism and maturation of vldl particles
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How do you share the knowledge with parents
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