Inborn errors of metabolism: Historical perspectives to contemporary management.

Autor: Mansoor S; Translational Genomics Laboratory, COMSATS University Islamabad, Islamabad, Pakistan; Department of Biochemistry, Shifa College of Medicine, Shifa Tameer-e-Millat University, Islamabad, Pakistan; Translational Genomics Laboratory, Taramri Chock, COMSATS University, Park Road, Islamabad, Islamabad 45550, Pakistan. Electronic address: sumreena.scm@stmu.edu.pk., Qamar R; Science and Technology Sector, ICESCO, Rabat 10104, Morocco; Pakistan Academy of Sciences, Islamabad, Pakistan; Translational Genomics Laboratory, Taramri Chock, COMSATS University, Park Road, Islamabad, Islamabad 45550, Pakistan., Azam M; Translational Genomics Laboratory, COMSATS University Islamabad, Islamabad, Pakistan; Translational Genomics Laboratory, Taramri Chock, COMSATS University, Park Road, Islamabad, Islamabad 45550, Pakistan. Electronic address: maleeha.azam@comsats.edu.pk.
Jazyk: angličtina
Zdroj: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Aug 15; Vol. 562, pp. 119883. Date of Electronic Publication: 2024 Jul 30.
DOI: 10.1016/j.cca.2024.119883
Abstrakt: There are many different genetic diseases called inborn errors of metabolism (IEM) which result from defective enzymes in the metabolic pathway. As a result, these defects either cause a harmful accumulation of substances or lead to a lack of certain types of molecule. The present review traces the origin and development of IEMs from Sir Archibald Garrod's theory in the early 20th century to current diagnostic and therapeutic approaches. It also involves a systematic literature review complying with PRISMA which included studies sourced from PubMed, Scopus, Web of Science and Google Scholar. It points out that high rates of consanguinity are associated with high prevalence rates for IEMs especially in the Eastern Mediterranean area. IEMS are classified as energy deficiency disorders, intoxication disorders, and storage disorders. Each category has a variety of clinical manifestations. This study incorporates different diagnostic methods ranging from simple biochemical tests to tandem mass spectrometry and next generation sequencing; while management approaches such as dietary modifications, enzyme replacement therapy and gene therapy were assessed for their efficacy. Specific attention is paid to Pakistan where there exists considerable consanguinity among people coupled with inadequate health care services which have seriously affected delivery of health care services thereby leading to numerous challenges for the country healthcare system during service provision.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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