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Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment
Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of energy. Galactosemia is an au...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313126/ https://www.ncbi.nlm.nih.gov/pubmed/35883524 http://dx.doi.org/10.3390/biom12070968 |
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author | Succoio, Mariangela Sacchettini, Rosa Rossi, Alessandro Parenti, Giancarlo Ruoppolo, Margherita |
author_facet | Succoio, Mariangela Sacchettini, Rosa Rossi, Alessandro Parenti, Giancarlo Ruoppolo, Margherita |
author_sort | Succoio, Mariangela |
collection | PubMed |
description | Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of energy. Galactosemia is an autosomal recessive genetic disease that can be diagnosed at birth, even in the absence of symptoms, with newborn screening by assessing the level of galactose and the GALT enzyme activity, as GALT defect constitutes the most frequent cause of galactosemia. Currently, galactosemia cannot be cured, but only treated by means of a diet with a reduced content of galactose and lactose. Although the diet is able to reverse the neonatal clinical picture, it does not prevent the development of long-term complications. This review provides an overview of galactose metabolism, molecular genetics, newborn screening and therapy of galactosemia. Novel treatments for galactosemia currently being investigated in (pre)clinical studies and potentially able to prevent long-term complications are also presented. |
format | Online Article Text |
id | pubmed-9313126 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-93131262022-07-26 Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment Succoio, Mariangela Sacchettini, Rosa Rossi, Alessandro Parenti, Giancarlo Ruoppolo, Margherita Biomolecules Review Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of energy. Galactosemia is an autosomal recessive genetic disease that can be diagnosed at birth, even in the absence of symptoms, with newborn screening by assessing the level of galactose and the GALT enzyme activity, as GALT defect constitutes the most frequent cause of galactosemia. Currently, galactosemia cannot be cured, but only treated by means of a diet with a reduced content of galactose and lactose. Although the diet is able to reverse the neonatal clinical picture, it does not prevent the development of long-term complications. This review provides an overview of galactose metabolism, molecular genetics, newborn screening and therapy of galactosemia. Novel treatments for galactosemia currently being investigated in (pre)clinical studies and potentially able to prevent long-term complications are also presented. MDPI 2022-07-11 /pmc/articles/PMC9313126/ /pubmed/35883524 http://dx.doi.org/10.3390/biom12070968 Text en © 2022 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 | Review Succoio, Mariangela Sacchettini, Rosa Rossi, Alessandro Parenti, Giancarlo Ruoppolo, Margherita Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment |
title | Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment |
title_full | Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment |
title_fullStr | Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment |
title_full_unstemmed | Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment |
title_short | Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment |
title_sort | galactosemia: biochemistry, molecular genetics, newborn screening, and treatment |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9313126/ https://www.ncbi.nlm.nih.gov/pubmed/35883524 http://dx.doi.org/10.3390/biom12070968 |
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