Duchenne muscular dystrophy and fatty acid oxidation defect in a pediatric patient
DOI:
https://doi.org/10.51481/amc.v56i3.850Keywords:
acyl-CoA dehydrogenase deficiency, fatty acids, beta oxidation disorder, Duchenne muscular dystrophy, dystrophinAbstract
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.
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