Analysis of serum amino acid profile in Cuban patients with clinical manifestations of aminoacidopathies

Introduction: aminoacidopathies are a group of inborn errors of metabolism caused by defects in metabolic pathways involving amino acids. Quantification of serum amino acids is necessary for the diagnosis of these defects. to analized the serum amino acid profile in patients with clinical manifestations of aminoacidopathies. an observational, descriptive, prospective case series study was carried out. 32 pediatric patients of both sexes with clinical manifestation of aminoacidopathies from 9 provinces of the country treated in specialized Clinical Genetics clinics were included. The samples were sent to the Biochemical Genetics Laboratory of the National Center for Medical Genetics in the period between January 2023 and June 2024. Ten serum amino acids were quantified by a High-Performance Reverse-Phase Liquid Chromatography method and pre-column derivatization with o-phthaldehyde implemented in the Laboratory. in the sample studied, the male sex predominated and the largest number of cases was contributed by the province of Havana. 53 % of the patients corresponded to the age group of 1 to 6 years. Neurological alterations and metabolic acidosis were the mains reasons for requesting a serum aminogram. In 59 % of the cases (19/32), significant alterations in the amino acid profile were identified, which allowed the identification of several types of aminoacidopathies as a possible diagnosis of the cases studied. the analysis of the serum amino acid profile is essential for the diagnosis of aminoacidopathies in patients with clinical alterations suggestive of these entities