DOI: 10.36347/sjams.2020.v08i02.036

Pages: 541-544

Ethylmalonic aciduria is an organic, genetic aciduria, of autosomal recessive inheritance, responsible for a major metabolic disorder, causing the vital prognosis. We illustrate through our work, the case of an infant of 9 months with sibling death as personal history. He was admitted to our department for neurological, digestive and cutaneous symptomatology (purpuric lesions and orthostatic acrocyanosis), evolving since the neonatal period with no improvment under symptomatic treatment. The metabolic assessment revealed a high serum concentration of lactate, acylcarnitine C5 and urinary excretion of ethylmalonic acid, suggesting the diagnosis of ethymalonic aciduria. The evolution of our patient was fatal before the confirmation of the diagnostic through a genetic study.