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Abstract: SA-PO368

Not All Severe Lactic Acidosis Implies an Ominous Prognosis

Session Information

Category: Trainee Case Report

  • 1300 Health Maintenance, Nutrition, and Metabolism


  • Ali, Nihal M., UMC, Ridgeland, Mississippi, United States
  • Castaneda, Jorge Luis, UMC, Ridgeland, Mississippi, United States

Glycogen Storage Disease (GSD) type 1, also knows as Von Gierke Disease is an inherited disorder caused by deficiencies of specific enzymes in the glycogen metabolism pathway. It comprises 2 major subtypes GSD 1a (deficiency of the enzyme Glucose 6 Phosphatase) and GSD 1b (deficiency of the transporter enzyme, Glucose 6 phosphatase translocase G6PT. GSD 1a results from mutation in G6PC gene on chromosome 17q21 that encodes G6Pase. GSD 1b results from mutations of SLC 37A4 gene on chromosome 11q23.3. Incidence is 1/100,000.

Case Description

This case is of 27 years old white female who was referred to clinic initially due to the following complaint metabolic acidosis and proteinuria of 3 gr/ 24 hr. Based on chart review, she has chronic lactic acidosis between 8-12 mmol/L and subsequent GAP metabolic acidosis. In addition, she has persistent hyperuricemia, hyperglycemia and hypertriglyceridemia. She used to have hypoglycemic episodes during childhood, however she has developed chronic pancreatitis and hyperglycemia due to glycogen deposition.


GSD leads to accumulation of Glycogen and fat in the in Liver, kidney and intestinal mucosa is the final result. Initial laboratory findings include hypoglycemia, lactic acidosis, hyperuricemia, hypercholesterolemia and hypertriglyceridemia.
Non-invasive molecular genetic testing that includes full gene sequencing of G6PC is preferred for making the diagnosis. Gene sequencing analysis has a detection rate of up to 100% however may miss certain mutations. Liver Biopsy has been also performed to demonstrate the glycogen deposition. Renal failure may occur from primary tubular or glomerular dysfunction. Glomerulosclerosis and podocytopaties have been described previously. The main targets for the management are the prevention of acute metabolic derangements, prevention of acute and long-term complications, attainment of normal psychological development and good quality of life. The main goal of this presented case that even though lactic acidosis is usually associated with poor short-term outcomes, the knowledge of metabolic pathways will help to approximate unusual etiologies of lactic acidosis in the adult population.