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Flux analysis of inborn errors of metabolism.

Abstract：

:Patients with an inborn error of metabolism (IEM) are deficient of an enzyme involved in metabolism, and as a consequence metabolism reprograms itself to reach a new steady state. This new steady state underlies the clinical phenotype associated with the deficiency. Hence, we need to know the flux of metabolites through the different metabolic pathways in this new steady state of the reprogrammed metabolism. Stable isotope technology is best suited to study this. In this review the progress made in characterizing the altered metabolism will be presented. Studies done in patients to estimate the residual flux through the metabolic pathway affected by enzyme deficiencies will be discussed. After this, studies done in model systems will be reviewed. The focus will be on glycogen storage disease type I, medium-chain acyl-CoA dehydrogenase deficiency, propionic and methylmalonic aciduria, urea cycle defects, phenylketonuria, and combined D,L-2-hydroxyglutaric aciduria. Finally, new developments are discussed, which allow the tracing of metabolic reprogramming in IEM on a genome-wide scale. In conclusion, the outlook for flux analysis of metabolic derangement in IEMs looks promising.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Reijngoud DJ

doi

10.1007/s10545-017-0124-5

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

309-328

issue

3

eissn

0141-8955

issn

1573-2665

pii

10.1007/s10545-017-0124-5

journal_volume

41

pub_type

杂志文章,评审

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