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Inborn Metabolic Diseases pp 277–296Cite as

Branched-chain Organic Acidurias/Acidaemias

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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.

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Authors and Affiliations

  1. Service de Neurologie et Maladies Métaboliques, Hôpital Robert Debré, 48 Boulevard Sérurier, 75019, Paris, France

    Hélène Ogier de Baulny

  2. Division of Metabolism, Bambino Gesu Hospital, Piazza S Onofrio 4, 00165, Rome, Italy

    Carlo Dionisi-Vici

  3. University Children’s Hospital, Moorenstrasse 5, 40225, Düsseldorf, Germany

    Udo Wendel

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  1. Hélène Ogier de Baulny
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  2. Carlo Dionisi-Vici
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  3. Udo Wendel
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Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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Baulny, H.O., Dionisi-Vici, C., Wendel, U. (2012). Branched-chain Organic Acidurias/Acidaemias. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_19

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