Question

Case 1: 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 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; 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 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!)

Answer 1

1. This is a case of hypoglycemia .

In hypoglycemia ,the relative ratio of insulin is less than epinephrine ,glucogon and cortisol .

2. The specific metabolic pathway which I choose is lipolysis because there is increase in the free fatty acids of this patient than normal level . Lipolysis is the enzymic process by which triacylglycerol, stored in cellular lipid droplets, is hydrolytically cleaved to generate glycerol and free fatty acids

3. Yes ,caritine supplemention will be beneficial for this patient as it would help to decrease the free fatty acids . Carnitine plays a critical role in energy production. It transports long-chain fatty acids into the mitochondria so they can be oxidized (“burned”) to produce energy