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 <span name="style_italic">DMD </span>gene and the A985G homozygous mutation of the <span name="style_italic">ACADM </span>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.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.

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