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Branched-chain Organic Acidurias/Acidaemias

  • Chapter
Inborn Metabolic Diseases

Zusammenfassung

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; 7 Box). 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 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-methylcrotonylglycinuria, 3-methylglutaconic (3-MGC) aciduria, short-/branched-chain acyl-CoA dehydrogenase deficiency, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, isobutyryl-CoA dehydrogenase deficiency, enoyl-CoA hydratase (ECHS1) deficiency, 3-hydroxyisobutyric aciduria (3-hydroxy-isobutyryl-CoA hydrolase or deacylase, HIBCH, deficiency), malonic aciduria (malonyl-CoA decarboxylase deficiency) and combined methylmalonic and malonic aciduria (ACSF3 deficiency). All these disorders can be diagnosed by identifying acylcarnitines and other organic acid compounds in plasma and urine by tandem MS or by gas chromatography-mass spectrometry (GC-MS) and all can be detected by newborn screening using tandem MS.

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Authors and Affiliations

  1. Service de Neurologie Pédiatrique et des Maladies Métaboliques Reference Center for Inborn Errors of Metabolism, Hôpital Robert Débre, 48, Boulevard Sécurier, 75019, Paris, France

    Manuel Schiff

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

    Hélène Ogier de Baulny

  3. Division of Metabolism, Bambino Gesù Children’s Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy

    Carlo Dionisi-Vici

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  1. Manuel Schiff
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  2. Hélène Ogier de Baulny
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  3. Carlo Dionisi-Vici
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Correspondence to Manuel Schiff , Hélène Ogier de Baulny or Carlo Dionisi-Vici .

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Editors and Affiliations

  1. Department of Neurology, Neurometabolic Unit, Hôpital Pitié Salpêtrière, Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Willink Biochemical Genetics Unit Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK

    John Walter

  4. Central Manchester University Hospitals NHS Foundation Trust, St Mary‘s Hospital, Manchester, UK

    John Walter

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Schiff, M., de Baulny, H.O., Dionisi-Vici, C. (2016). Branched-chain Organic Acidurias/Acidaemias. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_18

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