Branched-chain Organic Acidurias/Acidaemias View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2012

AUTHORS

Hélène Ogier de Baulny , Carlo Dionisi-Vici , Udo Wendel

ABSTRACT

Branched-chain organic acidurias or organic acidaemias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched-chain amino acids (BCAAs). Collectively, the most commonly encountered are maple syrup urine disease (MSUD), isovaleric aciduria (IVA), propionic aciduria (PA) and methyl malonic aciduria (MMA). They can present clinically as a severe neonatal-onset form of metabolic distress, an acute and intermittent late-onset form, or a chronic progressive form presenting as hypotonia, failure to thrive, and developmental delay. Other rare disorders involving leucine, isoleucine, and valine catabolism are 3-methylcrotonyl glycinuria, 3-methylglutaconic (3-MGC) aciduria, short-/branched-chain acyl-CoA dehydrogenase deficiency, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, isobutyryl-CoA dehydrogenase deficiency, 3-hydroxyisobutyric aciduria, and malonic aciduria. More... »

PAGES

277-296

References to SciGraph publications

Book

TITLE

Inborn Metabolic Diseases

ISBN

978-3-642-15719-6
978-3-642-15720-2

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-642-15720-2_19

DOI

http://dx.doi.org/10.1007/978-3-642-15720-2_19

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1005765591


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