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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | Biomolecules |
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| Online Access: | https://www.mdpi.com/2218-273X/12/7/968 |
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| author | Mariangela Succoio Rosa Sacchettini Alessandro Rossi Giancarlo Parenti Margherita Ruoppolo |
| author_facet | Mariangela Succoio Rosa Sacchettini Alessandro Rossi Giancarlo Parenti Margherita Ruoppolo |
| author_sort | Mariangela Succoio |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T10:22:20Z |
| format | Article |
| id | doaj.art-7ff4c3ca9211486482186ab0dd74eb91 |
| institution | Directory Open Access Journal |
| issn | 2218-273X |
| language | English |
| last_indexed | 2024-03-09T10:22:20Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj.art-7ff4c3ca9211486482186ab0dd74eb912023-12-01T21:56:35ZengMDPI AGBiomolecules2218-273X2022-07-0112796810.3390/biom12070968Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and TreatmentMariangela Succoio0Rosa Sacchettini1Alessandro Rossi2Giancarlo Parenti3Margherita Ruoppolo4CEINGE-Biotecnologie Avanzate s.c.ar.l., 80145 Naples, ItalyCEINGE-Biotecnologie Avanzate s.c.ar.l., 80145 Naples, ItalyDepartment of Translational Medical Sciences, University of Naples Federico II, 80131 Naples, ItalyDepartment of Translational Medical Sciences, University of Naples Federico II, 80131 Naples, ItalyCEINGE-Biotecnologie Avanzate s.c.ar.l., 80145 Naples, ItalyGalactosemia 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.https://www.mdpi.com/2218-273X/12/7/968galactosemianewborn screeninggalactose metabolismclassical galactosemiagene-based therapiessmall molecules therapies |
| spellingShingle | Mariangela Succoio Rosa Sacchettini Alessandro Rossi Giancarlo Parenti Margherita Ruoppolo Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment Biomolecules galactosemia newborn screening galactose metabolism classical galactosemia gene-based therapies small molecules therapies |
| 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 | galactosemia newborn screening galactose metabolism classical galactosemia gene-based therapies small molecules therapies |
| url | https://www.mdpi.com/2218-273X/12/7/968 |
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