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Inherited Metabolic Disorders: A Current Status

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Endocrine Disrupting Chemicals-induced Metabolic Disorders and Treatment Strategies

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Abstract

Inherited metabolic diseases (IMDs) are heterogeneous group of diseases that are mostly monogenic in nature. IMDs are caused by the genetic mutation in the enzyme activity results in accumulation of progressive intoxication compounds which ultimately leads to cell dysfunction or cell death. The clinical results of inherited metabolic diseases are severe that ultimately leads to death. In the past there are limited therapeutic measures available which are used for the treatment of inherited metabolic diseases including enzyme replacement therapy, and chaperone technology. Recent studies in the disciplines of molecular genetics, biochemistry, and cell biology have emerged many novel technologies in medicines including gene therapy, gene editing, cellular therapies, and organ transplantation provide potential treatment against these diseases. Main genetic defects cannot be fully cured by current therapies but these are helpful to overcome the metabolic problems. Further studies are required to make these therapeutic measures more efficient so that families get benefit that are affected by these in born errors of metabolism.

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Author information

Authors and Affiliations

  1. Department of Biochemistry, University of Agriculture, Faisalabad, Pakistan

    Muhammad Shahid & Arslan Rasool

  2. Department of Chemistry, Government College University, Faisalabad, Pakistan

    Fozia Anjum

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  1. Muhammad Shahid
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  2. Arslan Rasool
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Editors and Affiliations

  1. Department of Pharmaceutical Chemistry, Government College University Faisalabad, Faisalabad, Pakistan

    Muhammad Sajid Hamid Akash

  2. Department of Pharmacy, University of Agriculture Faisalabad, Faisalabad, Pakistan

    Kanwal Rehman

  3. Department of Chemistry, COMSATS University Islamabad, Islamabad, Pakistan

    Muhammad Zaffar Hashmi

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Shahid, M., Rasool, A., Anjum, F. (2021). Inherited Metabolic Disorders: A Current Status. In: Akash, M.S.H., Rehman, K., Hashmi, M.Z. (eds) Endocrine Disrupting Chemicals-induced Metabolic Disorders and Treatment Strategies. Emerging Contaminants and Associated Treatment Technologies. Springer, Cham. https://doi.org/10.1007/978-3-030-45923-9_4

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