SciELO - Scientific Electronic Library Online

 
vol.56 issue3Neonatal Diabetes Mellitus in Costa RicaEndovascular Repair of Aortic Coarctation with Adenosine Induced Cardiac Arrest author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

  • Have no similar articlesSimilars in SciELO

Share


Acta Médica Costarricense

On-line version ISSN 0001-6002Print version ISSN 0001-6012

Abstract

ACOSTA-GUALANDRI, Alejandra  and  JIMENEZ-HERNANDEZ, Mildred. Duchenne muscular dystrophy and fatty acid oxidation defect in a pediatric patient. Acta méd. costarric [online]. 2014, vol.56, n.3, pp.134-137. ISSN 0001-6002.

Clinical presentation of a pediatric patient diagnosed with Duchenne muscular dystrophy and medium chain acyl-CoA dehydrogenase deficiency. Both diseases were confirmed by a molecular analysis that detected the deletion of exons 45 to 50 in the DMD gene and the A985G homozygous mutation of the ACADM gene. The patient has a metabolic disease due to a mitochondrial fatty-acid oxidation disorder, characterized by non-ketotic hypoglycemias, with an autosomal recessive inheritance and a neurodegenerative condition, due to a defect in dystrophin protein synthesis, with an X- linked recessive inheritance. These rare genetic diseases, with different Mendelian inheritance patterns are present in the same individual.

Keywords : acyl-CoA dehydrogenase deficiency; fatty acids; beta oxidation disorder; Duchenne muscular dystrophy; dystrophin.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License