69
© The Editor(s) (if applicable) and The Author(s), under exclusive license
to Springer Nature Switzerland AG 2021
M. S. H. Akash et al. (eds.), Endocrine Disrupting Chemicals-induced
Metabolic Disorders and Treatment Strategies, Emerging Contaminants
and Associated Treatment Technologies,
https://doi.org/10.1007/978-3-030-45923-9_4
Chapter 4
Inherited Metabolic Disorders: A Current
Status
Muhammad Shahid, Arslan Rasool, and Fozia Anjum
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.
Keywords Inborn errors of metabolism · Inherited metabolic disorders ·
Hematopoietic stem cell transplantation · Enzyme replacement therapy ·
Gene therapy
M. Shahid (*) · A. Rasool
Department of Biochemistry, University of Agriculture, Faisalabad, Pakistan
F. Anjum
Department of Chemistry, Government College University, Faisalabad, Pakistan
© The Editor(s) (if applicable) and The Author(s), under exclusive license
to Springer Nature Switzerland AG 2021
M. S. H. Akash et al. (eds.), Endocrine Disrupting Chemicals-induced
Metabolic Disorders and Treatment Strategies, Emerging Contaminants
and Associated Treatment Technologies,
https://doi.org/10.1007/978-3-030-45923-9_4
Chapter 4
Inherited Metabolic Disorders: A Current
Status
Muhammad Shahid, Arslan Rasool, and Fozia Anjum
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.
Keywords Inborn errors of metabolism · Inherited metabolic disorders ·
Hematopoietic stem cell transplantation · Enzyme replacement therapy ·
Gene therapy
M. Shahid (*) · A. Rasool
Department of Biochemistry, University of Agriculture, Faisalabad, Pakistan
F. Anjum
Department of Chemistry, Government College University, Faisalabad, Pakistan