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Disorders of Haem Biosynthesis

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Book cover Inborn Metabolic Diseases

Abstract

X-Linked sideroblastic anaemia is due to a deficiency of the erythroid form of the first enzyme in the haem biosynthetic pathway, 5-aminolevulinic acid synthase. Characteristics of the disease include adult-onset anaemia, ineffective erythropoiesis with formation of ring sideroblasts, iron accumulation and pyridoxine responsiveness. Porphyrias are metabolic disorders that are due to altered activity of other enzymes of this pathway, and are associated with striking accumulations and excess excretion of haem pathway intermediates and their oxidised products. The three most common porphyrias, porphyria cutanea tarda, acute intermittent porphyria and erythropoietic protoporphyria, differ considerably from each other. Acute intermittent porphyria presents with acute neurovisceral symptoms and can be aggravated by certain drugs, hormones and nutritional changes, and is treated with intravenous haemin and carbohydrate loading. The skin is affected in the other two, although the skin manifestations and methods of diagnosis and treatment are very different.

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Authors and Affiliations

  1. Neurogenetics Unit Department of Neurology, School of Medicine of Ribeirao Preto University of Sao Paulo, Avenida Bandeirantes 3900, 14049-900, Ribeirao Preto, Brazil

    Charles Marquez Lourenço

  2. Department of Medicine and Community Health, The University of Texas Medical Branch, 700 Harborside Drive Galveston, 77555-1109, Harborside Drive Galveston, USA

    Chul Lee & Karl E. Anderson

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  1. Charles Marquez Lourenço
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  2. Chul Lee
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  3. Karl E. Anderson
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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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Lourenço, C.M., Lee, C., Anderson, K.E. (2012). Disorders of Haem Biosynthesis. 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_37

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_37

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