Abstract

CAMAYD VIERA, Ivette; NUEVAS PAZ, Lauro  and  ALVAREZ, Alina Concepción. Biochemical diagnosis of organic acidurias in Cuba: 2008-2013 period. Acta bioquím. clín. latinoam. [online]. 2015, vol.49, n.2, pp.209-214. ISSN 0325-2957.

Organic acidurias are the most frequent hereditary metabolic disorders in severely ill pediatric patients. In this work, the Cuban experience in the diagnosis of organic acidurias is reported. From July 2008 to December 2013, urine samples were collected from Cuban patients with clinical suspicion of inherited metabolic diseases. The analysis of urinary organic acid profile was performed by gas chromatography coupled to mass spectrometry. Urine samples from 488 Cuban patients from all over the country were processed. Out of the total number, 29 cases showed increased levels of lactic acid; however the confirmatory diagnosis of primary lactic acidurias was not carried out. Other frequent disorders among analyzed cases were methylmalonic acidurias (5), medium chain acyl-CoA deshydrogenase deficiency (3), alkaptonuria (3) and propionic aciduria (2). Metabolic acidosis and neurological symptoms were the most common clinical findings among diagnosed children. The results show the importance of organic acidurias testing in severely ill patients, since the accurate diagnosis of these diseases is crucial to define the most effective treatment for affected patients and it makes it possible to provide patients and their families with the possibility of proper genetic counseling and prenatal testing.

Keywords : Organic aciduria/acidemia; Organic acids; Inborn errors of metabolism; Gas chromatography; Mass spectrometry.

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