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Protein-dependent inborn errors of metabolism 

Protein-dependent inborn errors of metabolism
Chapter:
Protein-dependent inborn errors of metabolism
Author(s):

Georg F. Hoffmann

and Stefan Kölker

DOI:
10.1093/med/9780199204854.003.1202_update_004

July 30, 2015: This chapter has been re-evaluated and remains up-to-date. No changes have been necessary.

Update:

3-methylglutaconic acidurias—expanded discussion to reflect the increasing number of underlying defects that are recognized, with use of new nomenclature specifying syndrome and affected gene.

D-2-Hydroxyglutaric aciduria type 2—revised description of clinical presentation.

Combined D-2-and L-2-Hydroxyglutaric aciduria—description of this newly recognized condition.

Updated on 27 Feb 2014. The previous version of this content can be found here.
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date: 20 November 2017

Protein-dependent inborn errors of metabolism are caused by inherited enzyme defects of catabolic pathways or intracellular transport of amino acids. Most result in an accumulation of metabolites upstream of the defective enzyme (amino acids and/or ammonia), causing intoxication.

Protein-dependent metabolic diseases usually have a low prevalence except for some high-risk communities with high consanguinity rates. However, the cumulative prevalence of these disorders is considerable (i.e. at least >1:2000 newborns) and represents an important challenge for all public health systems....

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