Metabolic diseases - Biochemical changes resulting from inborn metabolic errors. DE

Inborn metabolic disorders represent a heterogeneous group of monogenic disorders caused by defects in a biochemical pathway due to the deficiency or abnormality of an enzyme, its cofactor, or a transporter, resulting in the accumulation of a substrate or toxic metabolite, or deficiency of a product. This chapter deals with biochemical changes resulting from inborn metabolic errors. It starts by approaching the historical perspective, worldwide prevalence, mortality, classification, and most frequent disorders, then focusing on advances in terms of diagnosis and treatment.

About the author

Carla Sousa (PhD in Chemistry), Carla Matos (PhD in Pharmacy) and Carla Moutinho (PhD in Pharmacy) are associate professores at the Fernando Pessoa University.

Product details

• Authors: Carla Matos, Carla Moutinho, Carla Sousa
• Publisher: LAP Lambert Academic Publishing
• Languages: English
• Product format: Paperback / Softback
• Released: 07.09.2022
• EAN: 9786205498569
• ISBN: 9786205498569
• No. of pages: 56
• Subject: Natural sciences, medicine, IT, technology > Biology > Biochemistry, biophysics