use glucose infusion for G6PD patients who cannot tolerate PO intake

Glucose-6-phosphatase deficiency, also known as von Gierke disease (and different from glucose-6-phosphate deficiency), was the first glycogen storage disease to have the responsible enzyme defect identified and therefore received the designation of “glycogen storage disease type 1.” It is the most common glycogen storage disease, occurring in about one in 100,000 live births through autosomal recessive transmission. Patients with von Gierke disease are unable to form glycogen to store glucose in the liver. Consequently, they need a continuous source of sugar to maintain normal blood sugar levels. Most of the time, these patients consume dextrose or fructose every couple of hours to maintain normal blood glucose levels. The 3-day gastrointestinal illness with persistent nausea and vomiting has resulted in the inability for the patient to consume exogenous glucose, and his body is unable to create endogenous glucose through gluconeogenesis because he does not have any glycogen stores. His tissues are glucose deficient, so they produce energy through anaerobic metabolism, resulting in considerable lactic acidosis. Treatment for this is provision of exogenous simple sugars like dextrose (choice C is correct). Within 2 h of starting an infusion of 5% dextrose, his lactic acidosis had completely resolved, he was breathing 12/min, and his abdominal pain was also improved. His serum bicarbonate level had increased to 23 mEq/L (23 mmol/L), and his anion gap acidosis had completely resolved.

Although he has mild acute kidney injury with some hyperkalemia, his renal failure is likely secondary to glucose deficiency in the kidney and some prerenal component because of volume depletion from his 3 days of gastrointestinal illness. His hyperkalemia is at least partly secondary to hydrogen ions shifting into the cells and potassium ions shifting out of the cells because of his acidosis. His hyperkalemia resolved after 2 h of dextrose infusion, and his acute kidney injury resolved with volume resuscitation (choice A is incorrect).

He has mild ketosis, which is likely a starvation ketosis. He does not have significant ketones in either his urine or his serum. In addition, his high anion gap metabolic acidosis can be explained by his high lactic acid level. His condition is caused by deficiency of glucose and not from deficiency in insulin or severe insulin resistance. An insulin infusion would lower his serum glucose level even further and would require significant exogenous dextrose to maintain adequate glucose levels (choice B is incorrect).

Because of his 3 days of persistent nausea, vomiting, and diarrhea, he presents with mild hypovolemic shock. It is unlikely that his mild degree of shock has created such severe tissue hypoperfusion that it accounts for his markedly elevated lactate level. Not all elevated lactic acid levels are due to hypotension or tissue hypoperfusion, such as lactic acidosis from metformin toxicity or hypermetabolism of tumors, or hypoglycemia. His BP is likely to respond well to volume resuscitation, and he likely does not need catecholamine vasopressors (choice D is incorrect).12345

Footnotes

  1. SEEK Questionnaires ↩

  2. Kaiser N, Gautschi M, Bosanska L, et al. Glycemic control and complications in glycogen storage disease type I: results from the Swiss registry. Mol Genet Metab. 2019;126(4):355-361. PubMed ↩

  3. Kishnani PS, Austin SL, Abdenur JE, et al; American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014;16(11):e1. PubMed ↩

  4. Rake JP, Visser G, Labrune P, et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002;161 Suppl 1:S20-34. PubMed ↩

  5. Talente GM, Coleman RA, Alter C, et al. Glycogen storage disease in adults. Ann Intern Med. 1994;120(3):218-226. PubMed ↩