{"title":"Metabolic signatures of galactosemia in magnetic resonance.","authors":"Calin Deleanu, Natalia Uşurelu, Daniela Blăniță, Alina Nicolescu","doi":"10.1007/s12551-025-01400-z","DOIUrl":null,"url":null,"abstract":"<p><p>The paper explores the information provided by various magnetic resonance (MR) techniques in the diagnosis of galactosemia. Galactosemia (GA) is an autosomal recessive inborn error of metabolism, included in the category disorders of carbohydrate metabolism. In this disorder, the body is unable to metabolize galactose, leading to the accumulation of toxic intermediates like galactose-1-phosphate, galactitol, and galactonate. The information provided by magnetic resonance imaging (MRI), localized nuclear magnetic resonance spectroscopy (MRS), and non-localized nuclear magnetic resonance (NMR) is complementary both in terms of data supplied and organ/body fluid targeted. In spite of this complementarity, we found that these MR techniques have never been jointly applied in the diagnosis of GA.</p><p><strong>Graphical abstract: </strong></p>","PeriodicalId":9094,"journal":{"name":"Biophysical reviews","volume":"17 6","pages":"1795-1806"},"PeriodicalIF":5.0000,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12957755/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biophysical reviews","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12551-025-01400-z","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/12/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"BIOPHYSICS","Score":null,"Total":0}
引用次数: 0
Abstract
The paper explores the information provided by various magnetic resonance (MR) techniques in the diagnosis of galactosemia. Galactosemia (GA) is an autosomal recessive inborn error of metabolism, included in the category disorders of carbohydrate metabolism. In this disorder, the body is unable to metabolize galactose, leading to the accumulation of toxic intermediates like galactose-1-phosphate, galactitol, and galactonate. The information provided by magnetic resonance imaging (MRI), localized nuclear magnetic resonance spectroscopy (MRS), and non-localized nuclear magnetic resonance (NMR) is complementary both in terms of data supplied and organ/body fluid targeted. In spite of this complementarity, we found that these MR techniques have never been jointly applied in the diagnosis of GA.
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Biophysical Reviews aims to publish critical and timely reviews from key figures in the field of biophysics. The bulk of the reviews that are currently published are from invited authors, but the journal is also open for non-solicited reviews. Interested authors are encouraged to discuss the possibility of contributing a review with the Editor-in-Chief prior to submission. Through publishing reviews on biophysics, the editors of the journal hope to illustrate the great power and potential of physical techniques in the biological sciences, they aim to stimulate the discussion and promote further research and would like to educate and enthuse basic researcher scientists and students of biophysics. Biophysical Reviews covers the entire field of biophysics, generally defined as the science of describing and defining biological phenomenon using the concepts and the techniques of physics. This includes but is not limited by such areas as: - Bioinformatics - Biophysical methods and instrumentation - Medical biophysics - Biosystems - Cell biophysics and organization - Macromolecules: dynamics, structures and interactions - Single molecule biophysics - Membrane biophysics, channels and transportation
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