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. 2025 Jul 1;20(1):330.
doi: 10.1186/s13023-025-03785-2.

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia

Cristiano do Amaral de Leon  1 , Sérgio Luis Amantea  2 , Renan Augusto Pereira  3 , Ellen O Dantas  4 , Jéssica Loekmanwidjaja  4 , Beatriz T Costa-Carvalho  4 , Juliana T L Mazzucchelli  5 , Carolina S Aranda  5 , Maria E González-Serrano  6 , Elizabeth Alejandra De La Cruz Córdoba  6 , Liliana Bezrodnik  7 , Ileana Moreira  7 , Janaira F S Ferreira  8 , Vera M Dantas  9 , Valéria S F Sales  9 , Carmen L Navarrete  10 , Maria M S Vilela  11 , Isabella P Motta  11 , Jose Luis Franco  12 , Julio Cesar Orrego Arango  12 , Jesús A Álvarez-Álvarez  12 , Lina Rocío Riaño Cardozo  12 , Julio C Orellana  13 , Antonio Condino-Neto  14 , Cristina M Kokron  14 , Myrthes T Barros  14 , Lorena Regairaz  15 , Diana Cabanillas  15 , Carmen L N Suarez  16 , Nelson A Rosario  17 , Herberto J Chong-Neto  17 , Olga A Takano  18 , Maria I S V Nadaf  18 , Lillian S L Moraes  18 , Fabiola S Tavares  19 , Flaviane Rabelo  19 , Jessica Pino  20 , Wilmer C Calderon  21 , Daniel Mendoza-Quispe  21 , Ekaterine S Goudouris  22 , Virginia Patiño  23 , Cecilia Montenegro  23 , Monica S Souza  24 , Aniela B X C Castelo Branco  24 , Wilma C N Forte  25 , Flavia A A Carvalho  26 , Gesmar Segundo  27 , Marina F A Cheik  27 , Pérsio Roxo-Junior  28 , Maryanna Peres  28 , Annie M Oliveira  29 , Arnaldo C P Neto  30 , Maria Claudia Ortega-López  31 , Alejandro Lozano  32 , Natalia Andrea Lozano  32 , Leticia H Nieto  33 , Anete S Grumach  34 , Daniele C Costa  35 , Nelma M N Antunes  36 , Victor Nudelman  37 , Camila T M Pereira  38 , Maria D M Martinez  39 , Francisco J R Quiroz  40 , Aristoteles A Cardona  41 , Maria E Nuñez-Nuñez  42 , Jairo A Rodriguez  43 , Célia M Cuellar  44 , Gustavo Vijoditz  45 , Daniélli C Bichuetti-Silva  46 , Carolina C M Prando  47
Affiliations

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia

Cristiano do Amaral de Leon et al. Orphanet J Rare Dis. .

Abstract

Background: Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by progressive degeneration, immunodeficiency, cancer predisposition, malnutrition, metabolic disorders, and chronic liver disease. The study aims to describe the nutritional status and plasma levels of biomarkers of lipid status, metabolic profile, and liver function of patients with A-T.

Results: A total of 218 patients from 9 Latin American countries were included in the study. The distribution of patients according to nutritional status by age group revealed an over-time increase in the proportion of patients with severe thinness (p = 0.016). High glucose and triglyceride levels were observed in 9.5% and 23.6% of patients, respectively. Total cholesterol was high in 31.7, and 34.0% had abnormal LDL-c levels. In the analysis of paired samples, a progressive increase in aspartate aminotransferase was observed over time.

Conclusions: The present results are comparable to those of previous studies also showing changes in nutritional status and in lipid, metabolic, and liver profiles over time. These findings confirm a high rate of thinness in patients with A-T and progressive deterioration as the disease progresses, as well as changes in plasma levels of biomarkers of lipid status, metabolic profile, and liver function.

Keywords: Aminotransferases; Ataxia telangiectasia syndrome; Glucose metabolism disorders; Lipid metabolism disorders; Malnutrition.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: This study was approved by the research ethics committees of all participating centers. Informed consent to participate in the study was obtained from all participants or their legal representatives. Consent for publication: Consent for publication was obtained from all participants or their legal representatives. Competing interests: The authors declare that they have no competing interests.

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