Advances in Inherited Metabolic Disorders

Dear Colleagues, 

Inborn errors of metabolism (IEM) are a group of rare genetic diseases caused by defects in genes coding for enzymes, structural proteins, or transporters belonging to a metabolic pathway. These diseases often arise due to the accumulation of toxic substrates or the deficiency of essential metabolites. Hundreds of inherited disorders of metabolism have been described, affecting lipid, carbohydrate, organic acid, and amino acids metabolism, as well as mitochondria, lysosome, and peroxisomal function, among others. 

For decades, nutrition has been the key therapeutic option for most IEM. Indeed, the management of IEM has traditionally consisted in dietary approaches and supportive therapy. In the field of nutrition, great efforts have been made to improve the quality of dietary therapy according to the increasing knowledge of the nutritional requirements of patients. In the past years, other treatments have become available, including enzyme and coenzyme replacement therapy, elimination of harmful substances, cell and organ transplantation, and gene therapy. The increasing therapeutic opportunities have encouraged efforts for early diagnosis in order to improve prognosis, reduce disease severity, and increase treatment efficacy. The expanded newborn screening programs play a crucial role in early diagnosis and identification of new disease phenotypes. In this frame, the study of the pathophysiology of IEM and of innovative therapeutic approaches has become an exciting research topic.

This Special Issue of Nutrients, entitled “Advances in Inherited Metabolic Disorders”, welcomes the submission of manuscripts, either describing original research or reviewing the scientific literature, focused on newly identified pathogenic mechanisms, nutritional approaches, and innovative therapies for IEM. Studies depicting the natural history of recognized diseases and how their prognosis has changed in the era of expanded newborn screening and novel clinical phenotypes are also very welcome.

Dr. Iris Scala
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Nutrients is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• Inborn Errors of Metabolism
• Diet
• Nutritional approach
• Enzyme replacement/substitute therapy
• Substrate reduction therapy
• Liver transplantation
• Gene therapy
• Phenylketonuria
• Amino acid metabolism disorders
• Carbohydrate metabolism disorders
• Lipid metabolism disorders
• Energy metabolism disorders
• Organic acid disorders
• Expanded newborn screening