Enfermedad de Tarui: reporte de caso

Abstract

"Tarui Disease: Case Report." Introduction: Tarui disease is an autosomal recessive pathology caused by inefficient phosphofructokinase (PFK) activity in striated muscle, an enzyme essential for glycolysis. It belongs to the family of genetic diseases characterized by the deposition of abnormal amounts of glycogen in tissues due to the lack of one or more enzymes involved in the synthesis or degradation of glycogen. Its incidence is estimated to be 1 case per 20,000 to 43,000 live births. One hundred confirmed cases have been reported worldwide from 1965 to date. The clinical manifestations of this pathology are mainly muscle weakness, exercise intolerance, cramps, myoglobinuria, and hemolysis. If a patient exercises excessively, without cramping or pain, they may develop rhabdomyolysis, which can lead to acute kidney injury. Definitive diagnosis of this pathology is achieved through next-generation DNA sequencing (NGS). Conclusion: This case highlights the importance of considering Tarui disease when evaluating patients with hemolytic anemia, muscle weakness, and exercise intolerance. Early diagnosis and proper nutritional care are crucial to the patient’s quality of life