43
© 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_2
Chapter 2
Impaired Carbohydrate Metabolism
in Metabolic Disorders
Hina Sharif, Kanwal Rehman, Muhammad Sajid Hamid Akash,
Kanwal Irshad, and Ghulam Murtaza
Abstract Metabolic disorders, also known as inborn errors of metabolism, are a
group of inherited genetic disorders due to enzymatic deficiency caused by some
defective genes. There are over 600 genetic metabolic disorders discovered so far,
many of them are present in newborns or after a short time thereafter. People affected
with these disorders often remain asymptomatic and healthy for even years. The
symptoms usually start appearing when the metabolism undergoes some stress conditions as in prolonged fasting or in febrile illness. Metabolic disorders due to
impaired carbohydrate metabolism are usually a result of deficiency of some
enzymes which are involved in the normal metabolic pathways of carbohydrates.
They are mostly autosomal recessive disorders. This chapter deals with the normal
metabolic pathways of fructose, galactose, and glycogen and some common metabolic disorders which are caused by the enzyme deficiency required for the metabolism for these carbohydrates.
Keywords Inborn metabolic disorders · Galactosemia · Essential fructosuria
Hereditary fructose intolerance · Glycogen storage diseases
H. Sharif · M. S. H. Akash · K. Irshad
Department of Pharmaceutical Chemistry, Government College University Faisalabad,
Faisalabad, Pakistan
K. Rehman (*)
Department of Pharmacy, University of Agriculture Faisalabad, Faisalabad, Pakistan
G. Murtaza
Department of Pharmacy, COMSATS University Islamabad, Lahore, 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_2
Chapter 2
Impaired Carbohydrate Metabolism
in Metabolic Disorders
Hina Sharif, Kanwal Rehman, Muhammad Sajid Hamid Akash,
Kanwal Irshad, and Ghulam Murtaza
Abstract Metabolic disorders, also known as inborn errors of metabolism, are a
group of inherited genetic disorders due to enzymatic deficiency caused by some
defective genes. There are over 600 genetic metabolic disorders discovered so far,
many of them are present in newborns or after a short time thereafter. People affected
with these disorders often remain asymptomatic and healthy for even years. The
symptoms usually start appearing when the metabolism undergoes some stress conditions as in prolonged fasting or in febrile illness. Metabolic disorders due to
impaired carbohydrate metabolism are usually a result of deficiency of some
enzymes which are involved in the normal metabolic pathways of carbohydrates.
They are mostly autosomal recessive disorders. This chapter deals with the normal
metabolic pathways of fructose, galactose, and glycogen and some common metabolic disorders which are caused by the enzyme deficiency required for the metabolism for these carbohydrates.
Keywords Inborn metabolic disorders · Galactosemia · Essential fructosuria
Hereditary fructose intolerance · Glycogen storage diseases
H. Sharif · M. S. H. Akash · K. Irshad
Department of Pharmaceutical Chemistry, Government College University Faisalabad,
Faisalabad, Pakistan
K. Rehman (*)
Department of Pharmacy, University of Agriculture Faisalabad, Faisalabad, Pakistan
G. Murtaza
Department of Pharmacy, COMSATS University Islamabad, Lahore, Pakistan