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New Developments in Biomarkers and Therapies for Inborn Errors of...
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New Developments in Biomarkers and Therapies for Inborn Errors of Metabolism

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (30 June 2016) | Viewed by 7463

Special Issue Editor

Prof. Dr. Can Ficicioglu

E-Mail Website
Guest Editor
1. Department of Pediatrics, Division of Human Genetics, Section of Biochemical Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
2. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the recent years, the development of genomic, metabolomic, and proteomic technologies has contributed to a notable increase in identifying new biomarkers for inborn errors of metabolism (IEM). Biomarkers, indicators of pathological processes, can be very helpful in diagnosis, choosing the right time to start treatment, monitoring treatment, assessing pharmacologic responses to a therapeutic intervention and prognostic evaluation of IEM. There have also been significant advances in the development of new therapies for IEM including enzyme replacement, autologous gene-modified stem cell transplant, and gene therapies. The introduction of new tests enabling newborn screening for many disorders including Niemann Pick Type A and B, Krabbe, MPS I and II, Gaucher, Pompe, Fabry, and ALD will undoubtedly incite researchers to develop new biomarkers and better treatments for IEM.

This Special Issue will focus on: (1) the current use of biomarkers in the clinical setting and the development of promising new markers for diagnosis and management of IEM; (2) new therapeutic interventions for IEM; and (3) research on the use and/or development of new biomarkers in the assessment of these new therapeutic interventions. Original research papers, case reports, mini and full reviews, and commentaries are all welcome.

Dr. Can Ficicioglu
Guest Editors

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. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly 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 1600 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.

Keywords

  • inherited metabolic diseases
  • proteomics
  • biomarkers
  • metabolomics
  • lysosomal storage disorders
  • gene therapy
  • enzyme replacement therapy
  • substrate reduction therapy
  • pharmacological chaperons

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Published Papers (1 paper)

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Case Report
Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder
by Maha Mourad, Johannes Häberle, Matthew T. Whitehead, Tamar Stricker and Andrea L. Gropman
Int. J. Neonatal Screen. 2016, 2(4), 10; https://doi.org/10.3390/ijns2040010 - 15 Nov 2016
Cited by 2 | Viewed by 6802
Abstract
Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency (OTCD). OTCD results in [...] Read more.
Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency (OTCD). OTCD results in impairment to excrete nitrogen, causing toxic buildup of ammonia with resultant encephalopathy. Hyperammonemia (HA) induces the conversion of glutamate to glutamine in the brain. Excess glutamine in the brain causes osmotic changes, cerebral edema, changes in astrocyte morphology, and cell death. Acute symptoms of HA include vomiting, hyperventilation, seizures, and irritability. Long-term neurological effects include deficits in working memory and executive function. To date, there are no predictors of prognosis of infants with neonatal onset OTCD outside of the plasma ammonia level at presentation and duration of a hyperammonemic coma. We provide a comprehensive analysis of a 16-year-old male with neonatal onset of OTCD as an example of how brain biomarkers may be useful to monitor disease course and outcome. This male presented at 8 days of life with plasma ammonia and glutamine of 677 and 4024 micromol/L respectively, and was found to have a missense mutation in Exon 4 (p. R129H). Treatment included protein restriction, sodium benzoate, and citrulline, arginine, and iron. Despite compliance, he suffered recurrent acute hyperammonemic episodes triggered by infections or catabolic stressors. We discuss the long-term effects of the hyperammonemic episodes by following MRI-based disease biomarkers. Full article
(This article belongs to the Special Issue New Developments in Biomarkers and Therapies for Inborn Errors of Metabolism)
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