Анализ крови на аминокислоты и ацилкарнитины для детей до 2 лет (26 показателей)

The Amino Acids and Acylcarnitines test for infants younger than 2 years (26 analytes) assesses plasma amino acid and acylcarnitine patterns using HPLC–MS/MS to evaluate suspected inborn errors of amino acid metabolism. This profile supports early recognition and diagnostic triage for aminoacidopathies and urea cycle disorders in neonates and young children. Abnormal patterns of specific amino acids alongside complementary acylcarnitines help prioritize confirmatory enzyme or molecular studies and guide urgent clinical decision-making when presentations include encephalopathy, seizures, hyperammonemia, or disturbances of acid–base status. Common synonyms include newborn screening for aminoacidopathies and amino acids and acylcarnitines panel.

This profile characterizes circulating amino acids and acylcarnitines in early childhood to identify patterns consistent with specific aminoacidopathies and urea cycle defects. Disorders encompassed by the panel include maple syrup urine disease (branched‑chain ketoacid dehydrogenase deficiency); citrullinemia type 1 and neonatal citrullinemia; argininosuccinic aciduria due to argininosuccinate lyase deficiency; ornithine transcarbamylase deficiency; carbamoyl phosphate synthetase deficiency; and N‑acetylglutamate synthase deficiency. The analysis also supports evaluation for nonketotic hyperglycinemia; tyrosinemia types 1 and 2; homocystinuria from cystathionine beta‑synthase deficiency; phenylketonuria; and argininemia owing to arginase deficiency. Interpretation relies on relative increases or decreases in specific amino acids with supportive acylcarnitine findings, which can direct targeted confirmatory enzymatic or genetic testing.