<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0121-8123</journal-id>
<journal-title><![CDATA[Revista Colombiana de Reumatología]]></journal-title>
<abbrev-journal-title><![CDATA[Rev.Colomb.Reumatol.]]></abbrev-journal-title>
<issn>0121-8123</issn>
<publisher>
<publisher-name><![CDATA[Asociación Colombiana de Reumatología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0121-81232020000100065</article-id>
<title-group>
<article-title xml:lang="en"><![CDATA[McArdle's disease: Diagnostic approach after clinical symptoms of vigorous exercise intolerance in a snowboarder in Alpes]]></article-title>
<article-title xml:lang="es"><![CDATA[Enfermedad de McArdle: enfoque diagnóstico después de los síntomas clínicos de intolerancia al ejercicio vigoroso en un snowboarder en los Alpes]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ganhao]]></surname>
<given-names><![CDATA[Sara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mariz]]></surname>
<given-names><![CDATA[Eva]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Melo-Pires]]></surname>
<given-names><![CDATA[Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Taipa]]></surname>
<given-names><![CDATA[Ricardo]]></given-names>
</name>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Costa]]></surname>
<given-names><![CDATA[Lúcia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Universitário do São João Rheumatology Department ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Department of Neurosciences Neuropathology Unit]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<volume>27</volume>
<numero>1</numero>
<fpage>65</fpage>
<lpage>67</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_arttext&amp;pid=S0121-81232020000100065&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_abstract&amp;pid=S0121-81232020000100065&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.org.co/scielo.php?script=sci_pdf&amp;pid=S0121-81232020000100065&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT McArdle's disease (glycogen storage disease type V) is an energy-dependent disorder of skeletal muscle caused by a deficiency of myophosphorylase, an important enzyme of carbohydrate metabolism that converts glycogen to glucose-1-phosphate. A 46 year-old man was sent to the rheumatology outpatient department with a 3-year history of severe exercise-induced cramps and myalgias. The episodes began when he worked in France and used to practice ski and snowboard in the Alps Mountain, with exercise intolerance, muscle cramps, and myoglobinuria. The laboratory results showed elevated serum creatine kinase levels (~15,000 U/L), and the biopsy of the deltoid muscle revealed glycogen subsarcolemmal vacuoles and absence of myophosphorylase enzymatic activity. This clinical case emphasises the importance of taking into account this metabolic disorder when faced with a patient with exercise intolerance and cramps, especially after vigorous/anaerobic exercise and elevated levels of CK activity. It is fundamental to explain the aetiology of the patient symptoms in order to improve quality of life and avoid unnecessary complications.]]></p></abstract>
<abstract abstract-type="short" xml:lang="es"><p><![CDATA[R E S U M E N La enfermedad de McArdle (enfermedad de almacenamiento de glucógeno tipo V) es un trastorno del músculo esquelético dependiente de la energía causado por una deficiencia de miofosforilasa, una importante enzima del metabolismo de los hidratos de carbono que convierte el glucógeno en glucosa-1-fosfato. Un hombre de 46 años de edad fue enviado al departamento de reumatología para pacientes ambulatorios con un historial de 3 años de calambres y mialgias severos inducidos por el ejercicio. Los episodios comenzaron cuando trabajó en Francia y solía practicar esquí y snowboard en el macizo de los Alpes, con intolerancia al ejercicio, calambres musculares y mioglobinuria. Las pruebas de laboratorio mostraron niveles elevados de creatina quinasa sérica (~ 15.000 U/l) y la biopsia del músculo deltoides reveló vacuolas subsarcolémicas de glucógeno y ausencia de actividad enzimática de la miofosforilasa. Nuestro caso clínico enfatiza la importancia de pensar en este trastorno metabólico cuando tenemos un paciente con intolerancia al ejercicio y calambres, especialmente después de un ejercicio vigoroso/anaeróbico y niveles elevados de actividad CK. Es fundamental explicar la etiología de los síntomas del paciente para mejorar la calidad de vida y evitar complicaciones innecesarias.]]></p></abstract>
<kwd-group>
<kwd lng="en"><![CDATA[McArdle's disease]]></kwd>
<kwd lng="en"><![CDATA[Glycogen storage disease]]></kwd>
<kwd lng="en"><![CDATA[Myophosphorylase]]></kwd>
<kwd lng="en"><![CDATA[Metabolic myopathy]]></kwd>
<kwd lng="en"><![CDATA[Exercise intolerance]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de McArdle]]></kwd>
<kwd lng="es"><![CDATA[Enfermedad de almacenamiento de glucógeno]]></kwd>
<kwd lng="es"><![CDATA[Miofosforilasa]]></kwd>
<kwd lng="es"><![CDATA[Miopatía metabólica]]></kwd>
<kwd lng="es"><![CDATA[Intolerancia al ejercicio]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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