Prenatal Diagnosis of Inborn Errors of Metabolism
-
Last Update: 2020-12-28
-
Source: Internet
-
Author: User
Search more information of high quality chemicals, good prices and reliable suppliers, visit
www.echemi.com
Inborn errors of metabolism are inherited conditions where there is a defect or block in a metabolic pathway leading to the accumulation of metabolite(s) proximal to the defect and a metabolic deficit distal to this (1). The defect usually results from a specific enzyme deficiency; however, defects in enzyme cofactors or activators/stabilisers can also lead to an enzyme deficiency in vivo. There might also be defects in certain transporter systems, at the plasma membrane level or within cellular compartments, which will also lead to metabolic disorders.
This article is an English version of an article which is originally in the Chinese language on echemi.com and is provided for information purposes only.
This website makes no representation or warranty of any kind, either expressed or implied, as to the accuracy, completeness ownership or reliability of
the article or any translations thereof. If you have any concerns or complaints relating to the article, please send an email, providing a detailed
description of the concern or complaint, to
service@echemi.com. A staff member will contact you within 5 working days. Once verified, infringing content
will be removed immediately.