Diagnóstico del defecto de Mioadenilato Deaminasa: test de ejercicio en Isquemia, biopsia muscular y secuenciación masiva del exoma.

Mioadenilate defect is a frecuent cause of metabolic myopathy. We can find a variety of clinic features. Patients can be asymptomatic or they present differents degrees of muscular impairment, from early fatigability to sever miophaty. Miodanilate Deaminase diagnosis requires a pathological anaerobic exercise test, with no rise of ammonium and rise of lactate. This fact should make us think about this defect. Mioadnilate Deaminase defect can be originated by other muscular diseases. Diagnosis confirmation needs genetic studies. Most often Sanger sequence and prevalent mutations are the genetic technics used. Probably, next generation sequence (NGS) could help us to discern between primary and secundary defects of enzyme. We report the caso of 28 years-old man with early fatigability and dystrophy sign who was diagnosed of Mioadenilate Deaminase. We supportted the diagnosis with anaerobic exercise test. Later, we confirmed the diagnosis with genetic analyse using next generation sequence.