Recent Advances in Inherited Metabolic Disorders

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Endocrinology and Metabolism Research".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 1814

Special Issue Editor


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Guest Editor
Department of Neuroscience and Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto, Via dei Sabelli 108, 00185 Rome, Italy
Interests: cognitive neuropsychology; cognitive neuroscience; neuropsychological assessment; developmental disabilities; autism spectrum disorders; psychiatric disorders; anxiety disorders; emotional and behavior problems; metabolic diseases
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Special Issue Information

Dear Colleagues,

Inherited metabolic disorders represent an extensive and heterogeneous collection of genetic conditions that impact the normal functioning of systemic biochemical processes.

Some of these conditions occur with psychiatric symptoms, but they can be overlooked in a psychiatric setting.

Psychiatric symptoms have a profound impact on long-term clinical outcome, and consequently represent an area of increasing importance in the treatment of inborn errors of metabolism.

This Special Issue of Biomedicines aims to present a collection of studies detailing the most recent advancements in the field of psychiatric disorders in inherited metabolic disorders. We also encourage the examination of the subsequent effects of inborn errors of metabolism from childhood to adulthood, in terms of the chronic or acute disruption of excitatory/inhibitory or monoaminergic neurotransmitter systems.

Authors are invited to submit original research papers as well as systematic and narrative reviews that can help to make advances in this field.

Dr. Filippo Manti
Guest Editor

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Keywords

  • psychiatric symptoms
  • inherited metabolic disorders
  • neurotransmitters
  • emotional and behavior problems
  • neuropsychological assessment

Published Papers (1 paper)

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Research

14 pages, 2554 KiB  
Article
Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
by Elisabetta Anna Tendi, Giovanna Morello, Maria Guarnaccia, Valentina La Cognata, Salvatore Petralia, Maria Anna Messina, Concetta Meli, Agata Fiumara, Martino Ruggieri and Sebastiano Cavallaro
Biomedicines 2023, 11(7), 1899; https://doi.org/10.3390/biomedicines11071899 - 4 Jul 2023
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Abstract
Hyperphenylalaninemia (HPA) is the most common inherited amino acid metabolism disorder characterized by serious clinical manifestations, including irreversible brain damage, intellectual deficiency and epilepsy. Due to its extensive genic and allelic heterogeneity, next-generation sequencing (NGS) technology may help to identify the molecular basis [...] Read more.
Hyperphenylalaninemia (HPA) is the most common inherited amino acid metabolism disorder characterized by serious clinical manifestations, including irreversible brain damage, intellectual deficiency and epilepsy. Due to its extensive genic and allelic heterogeneity, next-generation sequencing (NGS) technology may help to identify the molecular basis of this genetic disease. Herein, we describe the development and validation of a targeted NGS (tNGS) approach for the simultaneous detection of single-nucleotide changes and copy number variations (CNVs) in genes associated with HPA (PAH, GCH1, PTS, QDPR, PCBD1, DNAJC12) or useful for its differential diagnosis (SPR). Our tNGS approach offers the possibility to detail, with a high accuracy and in a single workflow, the combined effect of a broader spectrum of genomic variants in a comprehensive view, providing a significant step forward in the development of optimized patient care and management. Full article
(This article belongs to the Special Issue Recent Advances in Inherited Metabolic Disorders)
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