About this Research Topic
Inherited metabolic diseases (IMDs) are a group of disorders arising from impaired functions of a variety of enzymes, channels, carriers, or ligands/receptors due to mutations in the causative genes involving different metabolic pathways, characterized by disrupted metabolism and/or accumulation of usually toxic intermediate metabolites. The genetic pattern and clinical presentations are complex, and may involve any system across genders and clinical outcomes. Although rare individually, IMDs are numerous collectively and thus at the forefront of progress in Pediatrics.
Early recognition of the underlying etiology for an IMD is imperative in order to reduce unnecessary procedures, allowing for appropriate therapeutic approaches and possibly improving the prognosis of these diseases. However, the symptoms and signs among IMDs may overlap, making the etiology diagnosis challenging and time-consuming. Usually, the etiological diagnosis of these diseases was based on medical history, positive signs, as well as laboratory examinations including blood biochemistry and enzymatic testing. Genetic analysis of a specific gene may provide reliable diagnostic evidence, but with its low diagnostic efficiency, treatment interventions tend to be delayed. In recent years, next-generation sequencing (NGS) has provided a genetic analytic tool with high speed and high throughput in identifying disease-causing mutations and even causative genes.
This Research Topic will focus on the IMDs in pediatrics, aiming to report new findings in terms of their clinical, laboratory and genetic presentations as well as the management and outcomes collected from pediatric clinical practices. The theme scope includes but is not limited to the IMDs in the neuromuscular, digestive, and endocrinologic systems, provided they are definitely diagnosed by biochemical and genetic evidence such as novel pathogenic mutations or new causative genes. Please note, if contributors choose to submit Case Reports, they must be original and/or significantly advance the field to be considered for review.
Keywords: pediatric diseases, next-generation sequencing, genetic disorders, genetic diagnostics, clinical genetics
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