Branched-Chain Organic Acidurias View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1995

AUTHORS

H. Ogier de Baulny , U. Wendel , J.-M. Saudubray

ABSTRACT

Branched chain organic acidurias are a group of disorders that result from an inherited abnormality of specific enzymes mainly involving the catabolism of branched-chain amino acids (BCAA). Collectively, maple syrup urine disease (MSUD), isovaleric aciduria (IVA). 3-methylcrotonylglycinuria (3-MCG), propionic aciduria (PA), and methylmalonic aciduria (MMA) represent the most commonly encountered abnormal organic acidurias. Beside these disorders, 3-methylglutaconic aciduria and 3-hydroxyisobutyric aciduria due to leucine and valine catabolism defects, respectively, are rare diseases without any effective treatment (Fig. 1). More... »

PAGES

207-221

References to SciGraph publications

Book

TITLE

Inborn Metabolic Diseases

ISBN

978-3-662-03149-0
978-3-662-03147-6

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-662-03147-6_20

DOI

http://dx.doi.org/10.1007/978-3-662-03147-6_20

DIMENSIONS

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