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 ingestions 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 9AM; 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; ketones absent 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. Blood glucose levels remained stable with a continuous infusion of dextrose. Inpatient treatment consisted primarily of glucose supplementation and supportive care. Questions: In thisindividual, at the time of presentation, what isthe relative ratios of the following hormones: insulin epinephrine glucagon cortisol Based on the data presented above, thisindividual 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!)
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 ingestions 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 9AM; 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;
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. Blood glucose levels remained stable with a continuous infusion of dextrose.
Inpatient treatment consisted primarily of glucose supplementation and supportive care.
Questions:
In thisindividual, at the time of presentation, what isthe relative ratios of the following
hormones:
insulin epinephrine glucagon cortisol
Based on the data presented above, thisindividual 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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