Öz

Lactic acidosis is a serious and frequently encountered condition in oncological critical care. Although it is commonly associated with generalized or localized tissue hypoperfusion, metabolic and drug-related causes should also be considered. Early recognition and appropriate management are essential for improving outcomes in critically ill patients. We report a case of refractory lactic acidosis associated with unexplained hypoglycemia, hypertriglyceridemia, and hyperuricemia. Common causes of type A lactic acidosis, including hypoperfusion, anemia, hypoxia, and seizures, were excluded. Other potential causes of type B and D lactic acidosis, such as liver disease and medication effects, were also ruled out. The patient had no known history of metabolic disease during childhood; however, the clinical presentation and laboratory findings were highly suggestive of glycogen storage disease type Ib (GSD-Ib).

GSD-Ib is a rare autosomal recessive metabolic disorder caused by mutations in the glucose-6-phosphate translocase (G6PT) gene located on chromosome 11q23. The resulting defect impairs both glycogenolysis and gluconeogenesis, leading to metabolic abnormalities including hypoglycemia, hyperlactatemia, hyperuricemia, and hypertriglyceridemia. GSD-Ib Patients commonly develop neutropenia, which predisposes them to recurrent infections and often requires treatment with granulocyte colony-stimulating factor (G-CSF). Long-term G-CSF therapy has been associated with an increased risk of myeloid malignancies, particularly acute myeloid leukemia (AML).

Glycogen storage diseases are genetic disorders that are typically diagnosed in childhood, making diagnosis in adulthood extremely rare. In this case, a late genetic mutation was suspected to have resulted in adult-onset GSD-Ib and malignancy. This rare presentation suggests a possible link between GSD-Ib and AML. Therefore, surveillance for glycogen storage disease in patients with AML, and vice versa, may be warranted. This association should be considered in critically ill AML patients presenting with refractory lactic acidosis after exclusion of other etiologies.

Anahtar Kelimeler: AML, Acute myeloid leukemia, Lactic acidosis, Hypoglycemia, Cancer, Glycogen storage disease, Hypertriglyceridemia

Referanslar

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Said A, Gaber S, Ahmed G. Refractory lactic acidosis and hypoglycemia: a very rare presentation in critically ill leukemic patient possibly associated with adult-onset glycogen storage disease type Ib. Turk J Intensive Care. 2026;24(1):83-88. https://doi.org/10.63729/TJIC.2026.690