About this Research Topic
Inborn errors of carbohydrate metabolism are a heterogeneous subgroup of inborn errors that are caused by mutations in human genes coding for proteins involved in carbohydrate catabolic and anabolic pathways. Through the breakdown of sugars, carbohydrate catabolism allows a constant supply of energy (e.g. glycolysis), but also involves the breakdown of the cell’s complex oligosaccharides (e.g. lysosomal degradation of surface glycoconjugates) allowing the recycling of monosaccharides. On the other hand, anabolism of carbohydrates (e.g. gluconeogenesis) is required to supply newly synthesized sugars to catabolic pathways, also allowing interconversion of sugars and sustaining the synthetic pathways of complex carbohydrate structures such as glycosaminoglycans and glycans that are the carbohydrate moiety of glycoconjugates involved in multiple biological functions.
To advance the understanding of inborn errors of carbohydrate metabolism by highlighting novel clinical and biochemical/genetical findings in the context of basic research, diagnosis and treatment. We aim to advance in the integration of the knowledge of inborn errors of carbohydrate metabolism, both of catabolic and anabolic nature that are frequently studied separately, bringing forward the value of studying their interrelationships, both at the level of basic science as well as in the translational and clinical setting.
This Research Topic will accept Original Research, Case Reports, Review and Perspective articles relating to Inborn Errors of carbohydrate metabolism (eg. Congenital Disorders of Glycosylation, Lysosomal Storage Disorders, Glycogen Storage Diseases, Galactosemia & Fructosemia, Pyruvate Metabolism Disorders, Inherited Disorders of Gluconeogenesis) which address, but are not limited to, the following themes:
- Basic science of carbohydrate metabolism in disease
- Novel genetic and clinical findings
- Functional studies of genetic variants
- Innovative methods in genetic analysis and biochemical diagnosis
- Genetics & newborn screening
- Patient Outcomes of treatment
- Gene therapy and drug repurposing
Dr. Abreu is the founder of Genos Medica, and Dr. Elias received financial support from Sanofi Mexico. All other Topic Editors declare no competing interests with regards to the Research Topic subject.
To advance the understanding of inborn errors of carbohydrate metabolism by highlighting novel clinical and biochemical/genetical findings in the context of basic research, diagnosis and treatment. We aim to advance in the integration of the knowledge of inborn errors of carbohydrate metabolism, both of catabolic and anabolic nature that are frequently studied separately, bringing forward the value of studying their interrelationships, both at the level of basic science as well as in the translational and clinical setting.
This Research Topic will accept Original Research, Case Reports, Review and Perspective articles relating to Inborn Errors of carbohydrate metabolism (eg. Congenital Disorders of Glycosylation, Lysosomal Storage Disorders, Glycogen Storage Diseases, Galactosemia & Fructosemia, Pyruvate Metabolism Disorders, Inherited Disorders of Gluconeogenesis) which address, but are not limited to, the following themes:
- Basic science of carbohydrate metabolism in disease
- Novel genetic and clinical findings
- Functional studies of genetic variants
- Innovative methods in genetic analysis and biochemical diagnosis
- Genetics & newborn screening
- Patient Outcomes of treatment
- Gene therapy and drug repurposing
Dr. Abreu is the founder of Genos Medica, and Dr. Elias received financial support from Sanofi Mexico. All other Topic Editors declare no competing interests with regards to the Research Topic subject.
Keywords: carbohydrates, rare diseases, metabolism, glycosylation
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
