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Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study

Background: Classical homocystinuria (HCU) is an inborn defect of methionine metabolism caused by a deficiency of the enzyme cystathionine β-synthase (CBS). The main symptoms of classical homocystinuria are lens subluxation, bone lesions, vascular disease and developmental delay/intellectual disabil...

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Autores principales: Batycka, Małgorzata, Lange, Ewa, Ehmke vel Emczyńska-Seliga, Ewa, Jaworski, Maciej, Kobylińska, Maria, Lech, Natalia, Samborowska, Emilia, Lipiński, Patryk, Perkowska, Barbara, Pokora, Paulina, Rokicki, Dariusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10181419/
https://www.ncbi.nlm.nih.gov/pubmed/37432246
http://dx.doi.org/10.3390/nu15092112
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author Batycka, Małgorzata
Lange, Ewa
Ehmke vel Emczyńska-Seliga, Ewa
Jaworski, Maciej
Kobylińska, Maria
Lech, Natalia
Samborowska, Emilia
Lipiński, Patryk
Perkowska, Barbara
Pokora, Paulina
Rokicki, Dariusz
author_facet Batycka, Małgorzata
Lange, Ewa
Ehmke vel Emczyńska-Seliga, Ewa
Jaworski, Maciej
Kobylińska, Maria
Lech, Natalia
Samborowska, Emilia
Lipiński, Patryk
Perkowska, Barbara
Pokora, Paulina
Rokicki, Dariusz
author_sort Batycka, Małgorzata
collection PubMed
description Background: Classical homocystinuria (HCU) is an inborn defect of methionine metabolism caused by a deficiency of the enzyme cystathionine β-synthase (CBS). The main symptoms of classical homocystinuria are lens subluxation, bone lesions, vascular disease and developmental delay/intellectual disability. The treatment method for HCU is a methionine-poor diet supplemented with amino acid preparations. The aim of the study was to examine the relationship of dietary factors, metabolic compensation and selected skeletal parameters in patients with HCU. Methods: Bone mineral density measurements (DXA) were performed in pediatric patients with HCU, and blood levels of selected amino acids, minerals and vitamins, as well as dietary nutritional value, were analyzed. Results: A total of 11 patients with HCU whose median age was 9.3 years were enrolled in the study. The median DXA total body less head of HCU patients was −0.4 z-score, and the lumbar spine was −1.4 z-score. Despite supplementation, calcium intake was below the age norm. Average vitamin D3 intake was in line with recommendations, but 36% of patients had reduced blood levels. Bone mineral density depended on blood levels of 25-hydroxyvitamin D, homocysteine and methionine, as well as on BMI, age and intake of natural protein (R(2) = 98.5%, p = 0.015; R(2) = 86.7%, p = 0.0049) and protein from an amino acid preparation (r = 0.69, p = 0.026). Conclusion: The results of the study indicate the need for regular densitometry in patients with HCU and also the use of additional calcium and vitamin D3 supplementation. It is also necessary to perform a comprehensive analysis of the diet and metabolic controls.
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spelling pubmed-101814192023-05-13 Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study Batycka, Małgorzata Lange, Ewa Ehmke vel Emczyńska-Seliga, Ewa Jaworski, Maciej Kobylińska, Maria Lech, Natalia Samborowska, Emilia Lipiński, Patryk Perkowska, Barbara Pokora, Paulina Rokicki, Dariusz Nutrients Article Background: Classical homocystinuria (HCU) is an inborn defect of methionine metabolism caused by a deficiency of the enzyme cystathionine β-synthase (CBS). The main symptoms of classical homocystinuria are lens subluxation, bone lesions, vascular disease and developmental delay/intellectual disability. The treatment method for HCU is a methionine-poor diet supplemented with amino acid preparations. The aim of the study was to examine the relationship of dietary factors, metabolic compensation and selected skeletal parameters in patients with HCU. Methods: Bone mineral density measurements (DXA) were performed in pediatric patients with HCU, and blood levels of selected amino acids, minerals and vitamins, as well as dietary nutritional value, were analyzed. Results: A total of 11 patients with HCU whose median age was 9.3 years were enrolled in the study. The median DXA total body less head of HCU patients was −0.4 z-score, and the lumbar spine was −1.4 z-score. Despite supplementation, calcium intake was below the age norm. Average vitamin D3 intake was in line with recommendations, but 36% of patients had reduced blood levels. Bone mineral density depended on blood levels of 25-hydroxyvitamin D, homocysteine and methionine, as well as on BMI, age and intake of natural protein (R(2) = 98.5%, p = 0.015; R(2) = 86.7%, p = 0.0049) and protein from an amino acid preparation (r = 0.69, p = 0.026). Conclusion: The results of the study indicate the need for regular densitometry in patients with HCU and also the use of additional calcium and vitamin D3 supplementation. It is also necessary to perform a comprehensive analysis of the diet and metabolic controls. MDPI 2023-04-27 /pmc/articles/PMC10181419/ /pubmed/37432246 http://dx.doi.org/10.3390/nu15092112 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Batycka, Małgorzata
Lange, Ewa
Ehmke vel Emczyńska-Seliga, Ewa
Jaworski, Maciej
Kobylińska, Maria
Lech, Natalia
Samborowska, Emilia
Lipiński, Patryk
Perkowska, Barbara
Pokora, Paulina
Rokicki, Dariusz
Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study
title Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study
title_full Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study
title_fullStr Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study
title_full_unstemmed Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study
title_short Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria—A Preliminary Study
title_sort relationship between bone mineral density and selected parameters of calcium-phosphate economy with dietary management and metabolic control in polish pediatric patients with classical homocystinuria—a preliminary study
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10181419/
https://www.ncbi.nlm.nih.gov/pubmed/37432246
http://dx.doi.org/10.3390/nu15092112
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