2024 / 01

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DOI: 10.24075/brsmu.2024.003

ORIGINAL RESEARCH

Determining the diagnostic value of the markers of congenital metabolic disorders by chromatography–mass spectrometry

Mamedov IS1, Zolkina IV2, Sukhorukov VS3, Krapivkin AI1
About authors

1 Voino-Yasenetsky Scientific and Practical Center for Specialized Assistance to Children, Moscow, Russia

2 LLC Clinic of New Medical Technologies “ArchiMed”, Moscow, Russia

3 Research Center of Neurology, Moscow, Russia

Correspondence should be addressed: Irina V. Zolkina
Vavilova, 68, k. 2, Moscow, 119261, Russia; ur.liam@ari_anikloz

About paper

Author contribution: Mamedov IS — research idea; Mamedov IS, Zolkina IV — research methods and procedure, statistical data processing; Zolkina IV — manustript writing; Mamedov IS, Sukhorukov VS, Zolkina IV, Krapivkin AI — manuscript editing; Krapivkin AI — research management.

Compliance with ethical standards: the study was approved by the Ethics Committee of the Pirogov Russian National Research Medical University (protocol № 94 dated 14 December 2009). All parents or caregivers of the subjects submitted the informed consent to participation in the study.

Received: 2024-01-11 Accepted: 2024-01-29 Published online: 2024-02-15
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Fig. 1. Comparison of marker metabolite levels in surveyed individuals of the comparison group and the patients with phenylketonuria (diagnostic marker — phenylalanine (Phe)), nonketotic hyperglycinemia (diagnostic marker — glycine (Gly)), and hyperammonemia (diagnostic marker — alanine (Ala))
Fig. 2. Comparison of marker metabolite levels in surveyed individuals of the comparison group and the patients with methylmalonic acidemia (diagnostic marker — propionylcarnitine (С3)) and homocystinuria (diagnostic marker — methionine (Met))
Fig. 3. Heatmap with a dendrogram of amino acid and acylcarnitine profile in patients with disturbed metabolism of these substances (the ratio of the diagnostic marker concentrations to the average concentration value in the control groups corresponds to the color chart)
Fig. 4. ROC curve for the sum of normalized acylcarnitines (С12+С16) Sensitivity
Fig. 5. Results of the correlation analysis performed in the group of marker short-chain acylcarnitines (р < significance level)
Fig. 6. Results of the correlation analysis performed in the group of marker amino acids (р < significance level)
Table. Diseases found in the group of patients with suspected aminoacidopathy and organic aciduria/acidemia based on the dry blood spot analysis by high-performance liquid chromatography–tandem mass spectrometry