Question

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)

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

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. B-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

Ella had not taken food for around 24 hours. Glycogen provides energy for around 18 hours.So options regarding glucose process are ruled out.Since the blood glucose didnt rise much after administering glucagon, it indicates glycogen reserves are nearly finished.

After this period of starvation, fat is used to provide energy.

Dicarboxylic acid levels are increased but ketones are absent.

Lipolysis has occurred leading to increased free fatty acid level in blood.

Ratio = Insulin is low ,others are high .

This indicates a problem in the beta oxidation of fatty acids and ketogenesis.

This indicates there is problem in the transport.

Yes carnitine will be helpful in treating this condition.Carnitine helps in the transport of fatty acids across the mitochondrial membrane.