Contreras RJ, Martínez RL, Marín PLC, Camayd VI, Concepción ÁA, Acosta ST

Language: Spanish
References: 25
Page: 1-19
PDF size: 483.02 Kb.

ABSTRACT

Introduction: Aminoacidopathies are inborn errors of catabolism, biosynthesis, or transport of amino acids. Symptoms can be acute in a state of catabolism, originated by an increment in amino acid levels. The clinical manifestations depend on the quantity and toxicity of the accumulated metabolites or the specifics of the deficient product. These diseases can be detected by analyzing the amino acid profile in different biological fluids and the profile of organic acids in urine. Its diagnosis, management and treatment is complex, so it requires extensive knowledge and experience by medical personnel.
Objective: to popose a guide with recommendations for the adequate clinical and biochemical diagnosis of aminoacidopathies.
Methods: Several specialized sources and platforms of international medical journals, international scientific societies, national and international websites and databases over the last 10 years were consulted. We used 10 descriptors related to the objective of this work; and the criteria of the more experienced experts in the diagnosis, treatment and management of inborn errors of the metabolism in Cuba were taken into account. Results: A document was elaborated which includes practical recommendations directed to the medical personnel that guarantee the clinical-biochemical diagnosis of the minoacidopathies.
Conclusions: Knowing and applying these recommendations will guarantee a quick and accurate diagnosis of these complex diseases.

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