Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey

Abstract

Justification: The acidemia propionica (AP) is one of the most frequent organic acidemias constitutes inside the congenital errors of the metabolism (CEM). The organic acidemias originates of congenital enzymatic defects that affect the catabolism of the ramified amino acids (AACR) valina, leucina, and isoleucina. In the case of the AP, the molecular damage resides in the deficiency of the activity carboxilasa of the propionil-CoA: an enzyme mitocondrial biotina-clerk that catalyzes the propionil-CoA transformation in metilmanolil-CoA, metabolic step that makes possible the degradation of the AACR valina and isoleucina, as well as of the sulfurated metionina and treonina. The precocious diagnosis of the AP is important to prevent the mental delay and the affected boy's death. Objective: To present the case of preescolar with diagnostic of AP from the birth with favorable evolution, in spite of their multiple revenues with secondary states of extreme graveness to disproportionates. Clinical case: Patient of four years of age that began to present rejection to the foods, vomits and retard of the psychomotor development from the birth. The first revenues were motivated by dehydrations and severe metabolic acidosis, with neurological manifestations that took it to the coma in an opportunity. She was carried out the diagnosis of AP and doctors began the necessary and correct dietary treatment. Conclusions: Before a patient with neurological manifestations that could made a mistake with a sharp intoxication in the stage neonatal, accompanied by vomits, retard of the growth, metabolic acidosis of not very clear cause, it should be suspected the acidemia or aciduria propionica or any other of the CEM. Nutritional improvement was observed and of the psychomotor development after the introduction of a diet free of proteins and leaning with supplements of vitamins.

Acidemia propiónica en Ecuador a propósito un caso

“…Los daños neurológicos pueden causar retraso del desarrollo psicomotor, que se agravaría y se profundizaría si la AP no se detecta a tiempo, y no se corrige. La AP también puede ocasionar disfunción renal y miocardiopatía (Benavente et al, 2020).…”