Resumo

ACOSTA-GUALANDRI, Alejandra  e  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.

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

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