Mioadenilate Deaminase defect diagnosis: Ischemic exercise test, muscular biopsy and whole exome sequency.

Authors

  • Juan José Nava Mateos Servicio de Medicina Interna, Hospital Arnau de Vilanova, Valencia.
  • Raquel Besse Díaz Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal.
  • Vicente Gómez del Olmo Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal.
  • Olivia Sánchez Sánchez Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal.
  • Diego Ramón Cebrián Novella Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal.
  • María Soledad Añón Roig Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal.
  • Marta Rosas Cancio Suárez Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal.

DOI:

https://doi.org/10.19230/jonnpr.1184

Keywords:

Mioadenilate deaminase, ischaemic exercise test, ammonium, lactate, muscle biopsy, whole exom sequence.

Abstract

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.

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Author Biography

Juan José Nava Mateos, Servicio de Medicina Interna, Hospital Arnau de Vilanova, Valencia.

Especialista en Medicina Interna.

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Additional Files

Published

2016-10-25

Issue

Vol. 2 No. 1: (January 2017) JONNPR.2017;2(1):1-40

Section

Clinical Case

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