SSIEM Classification of Inborn Errors of Metabolism
Inborn errors of metabolism that belong to the same biochemical pathway often have similar clinical features, are detected by the same diagnostic procedures (basic and special diagnostic tests), and are treated according to similar principles of emergency
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Johannes Zschocke
Content 55.1 Introduction ......................................................................
55.1
Introduction
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Inborn errors of metabolism that belong to the same biochemical pathway often have similar clinical features, are detected by the same diagnostic procedures (basic and special diagnostic tests), and are treated according to similar principles of emergency intervention and long-term management. These clinical aspects are reflected in the SSIEM classification of inborn errors of metabolism which groups the large number of individual conditions according to their respective biochemical pathways or disease groups as well as common pathophysiological mechanisms. The SSIEM classification can be used for learning and understanding inborn errors of metabolism, provides a framework for textbooks and is expected to form the basis of the classification of inherited metabolic disorders in the forthcoming 11th edition of the international classification of diseases (ICD11).
J. Zschocke Division of Human Genetics, Medical University Innsbruck, Schöpfstr 41, 6020 Innsbruck, Austria e-mail: [email protected] N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, DOI 10.1007/978-3-642-40337-8_55, © Springer-Verlag Berlin Heidelberg 2014
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818 Disease group/disease 1. Disorders of amino acid and peptide metabolism 1.1. Urea cycle disorders and inherited hyperammonaemias 1.1.1. Carbamoylphosphate synthetase I deficiency 1.1.2. N-acetylglutamate synthetase deficiency 1.1.3. Ornithine transcarbamylase deficiency 1.1.4. Citrullinaemia type 1 1.1.5. Argininosuccinic aciduria 1.1.6. Argininaemia 1.1.7. HHH syndrome 1.1.8. Citrullinaemia type 2 1.1.9. Hyperinsulinemic hypoglycaemia and hyperammonaemia 1.2. Organic acidurias 1.2.1. Glutaric aciduria 1.2.1.1. Glutaric aciduria type I 1.2.1.2. Glutaric aciduria type III 1.2.2. Propionic aciduria 1.2.3. Methylmalonic aciduria 1.2.3.1. Methylmalonyl-CoA mutase deficiency 1.2.3.2. Methylmalonyl-CoA epimerase deficiency 1.2.4. Isovaleric aciduria 1.2.5. Methylcrotonylglycinuria 1.2.6. Methylglutaconic aciduria 1.2.6.1. Methylglutaconic aciduria type I 1.2.6.2. Methylglutaconic aciduria type II, Barth syndrome 1.2.6.3. Methylglutaconic aciduria type III, Costeff syndrome 1.2.6.4. Methylglutaconic aciduria type IV 1.2.6.5. Methylglutaconic aciduria type V 1.2.7. 3-Hydroxy-3-methylglutaric aciduria 1.2.8. 2-Methylbutyric aciduria 1.2.9. 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease 1.2.10. 3-Oxothiolase deficiency 1.2.11. Isobutyric aciduria 1.2.12. Methacrylic aciduria 1.2.13. 3-Hydroxyisobutyric aciduria 1.2.14. Methylmalonate semialdehyde dehydrogenase deficiency 1.2.15. l-2-hydroxyglutaric aciduria 1.2.16. d-2-hydroxyglutaric aciduria 1.2.16.1. d-2-hydroxyglutarate dehydrogenase deficiency 1.2.16.2. Mitochondrial isocitrate dehydrogenase deficiency 1.2.17. Aminoacylase deficiency 1.2.17.1. Aminoacylase 1 deficiency 1.2.17.2. Aminoacylase 2 deficiency 1.2.18. Methylmalon
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