Licourt OD, Vara COL, Sarmiento PY, Toledo TZ

Language: Spanish
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ABSTRACT

Propionic acidemia, although rare, is one of the most frequent metabolic errors, one case per 100,000 live births. It has an autosomal recessive inheritance. A case with a diagnosis of propionic acidemia is presented. A review of 12 bibliographic citations was made in Pubmed database, OMIM, which was based on the clinical, biochemical and genetic characteristics of the entity. To make the diagnosis, clinical manifestations, age of presentation and results of complementary examinations were taken into account. The clinical manifestations of this severe neonatal form present in this case were described, with expression in the first week of life, given by: respiratory distress, electrolyte imbalance, metabolic acidosis with elevated anion gap, ketonuria and specific biochemical studies suggesting organic aciduria, specifically propionic.