Branched-Chain Organic Acidurias/Acidemias View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2006

AUTHORS

Udo Wendel , Hélène Ogier de Baulny

ABSTRACT

Branched-chain organic acidurias or organic acidemias 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 methylmalonic aciduria (MMA). They can present clinically as a severe neonatal onset form of metabolic distress, an acute, 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. All the disorders can be diagnosed by identifying acylcarnitines and other organic acid compounds in plasma and urine by gas chromatography-mass spectrometry (GC-MS) or tandem MS and all can be detected by newborn screening using tandem MS. More... »

PAGES

245-262

References to SciGraph publications

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  • Book

    TITLE

    Inborn Metabolic Diseases

    ISBN

    978-3-540-28783-4
    978-3-540-28785-8

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/978-3-540-28785-8_19

    DOI

    http://dx.doi.org/10.1007/978-3-540-28785-8_19

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1023539826


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