Novel Concept and Therapeutic Implications of Inborn Errors of Metabolism
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".
Deadline for manuscript submissions: closed (30 September 2024) | Viewed by 597
Special Issue Editors
Interests: neurogenetics; neuromuscular diseases; motor neuron disease; amyotrophic lateral sclerosis; congenital myasthenic syndromes; inherited metabolic disorders; hereditary spastic paraplegia; Charcot-Marie-Tooth disease
Special Issues, Collections and Topics in MDPI journals
Interests: neuromuscular disorders; neurogenetics; rare diseases; inherited metabolic disorders; acute hepatic porphyria; mucopolysaccharidosis; glycogen storage diseases; late onset Pompe disease; metabolic myopathies; cerebrotendinous xanthomatosis; hereditary spastic paraplegia; inherited neuropathies
Special Issues, Collections and Topics in MDPI journals
Interests: neuromuscular diseases; motor neuron disease; rare diseases; hereditary spastic paraplegia; stiff-person syndrome; metabolic myopathies; inborn errors of metabolism
Interests: neurometabolic disorders; neuromuscular diseases; neonatal neurology; autism spectrum disorders; floppy baby syndrome; metabolic myopathies; inherited metabolic disorders; rare diseases
Special Issue Information
Dear Colleagues,
Inherited metabolic disorders always represent a great challenge in clinical practice due to its heterogeneous presentation and complex diagnosis and management strategies. The traditional concept of inborn errors of metabolism, introduced by Sir Archibald Edward Garrod (1857-1936), the major pioneer of metabolic medicine, evolved and became a specialized subspeciality within medical genetics. In addition, the perception that only enzymatic deficiency mechanisms, originating a deficiency of products of metabolic pathways as well as pathological intermediate metabolites, and the dysfunction of surface transporters and receptors would be responsible for all inherited metabolic diseases has completely changed in the last decade. If we consider neurological disorders, for example, the interface with neurodevelopmental, neuroinflammatory and even neurodegenerative diseases has become very close and often overlaps. Since the introduction of the new International Classification of Inherited Metabolic Disorders (ICIMD) in 2021, there has been a great revolution regarding the understanding of pathophysiological mechanisms related to several diseases as well as the diagnosis and classification of several neurological disorders that were not previously considered inborn errors of metabolism. Thus, more than 1450 distinct hereditary metabolic diseases have been classified and categorized, which has led to the need to expand the concepts related to the previous three groups of clinical manifestations related to inherited metabolic disorders introduced by Prof. Jean-Marie Saudubray. It is in this modern and promising current scenario of metabolic neurogenetic diseases that this Special Issue, entitled “Novel Concept and Therapeutic Implications of Inborn Errors of Metabolism”, is inserted.
We invite you to submit your research to this Special Issue of Metabolites and contribute to the expansion of the current knowledge related to inborn errors of metabolism. Original manuscripts, narrative reviews, systematic reviews, case reports, and protocols are welcome for submission. We look forward to receiving your contributions to this Special Issue.
Dr. Wladimir Bocca Vieira De Rezende Pinto
Dr. Paulo Victor Sgobbi De Souza
Dr. Igor Braga Farias
Dr. Roberta Ismael Lacerda MacHado
Guest Editors
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Keywords
- inborn errors of metabolism
- inherited metabolic disorders
- neurometabolic disorders
- metabolomics
- gene therapy
- enzyme replacement therapy
- nutritional (dietary) therapy
- small interfering (siRNA)-based therapy
- pharmacological chaperone therapy
- bone-marrow-derived stem cell transplantation
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