Fumarase deficiency: a difficult diagnosis and a challenging treatment approach

Abstract

Introduction: Fumarase deficiency is a rare autosomal metabolic disease that curse with hypotonia, hyperlacticaemia and seizures. Diagnosis based in laboratory test might be done carefully, as most of metabolic diseases present similar symptomatology: hypotony, convulsions, lactic and pyruvic acidemia. Method: The objective is to analyse the pharmacological and nutritional approach of a neonate who presented symptoms of metabolic congenital disorders. Results: The patient is a three-month girl with heterozygote mutation in fumarase gene, who presented clinical manifestations of the altered enzyme function. She presented hyperlacticaemia, organic aciduria and alterations of amino acid levels. First diagnosis suspected was pyruvate dehydrogenase deficiency, so nutritional treatment with ketogenic diet was initiated. After medical discharge, she was hospitalized in emergency basis with cardiac arrest and metabolic decompensation. Genetic test revealed a heterozygote mutation in fumarase. Clinical symptomatology could have worsened because of the difficult diagnosis. Conclusions: Nutritional and pharmacological treatment of fumarase deficiency is considered essential for the patient’s evolution, but further researchers must be carried out to profoundly understand the mechanism underlying metabolic inborn errors. Multidisciplinary teams would manage the disease from the point of view of diverse clinician experts so the correct diagnosis and treatment would be decided with precision.