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Disorders of Haem Biosynthesis

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Zusammenfassung

X-Linked sideroblastic anaemia is often due to loss of function mutations of ALAS2. 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 enzymes of this pathway, and are associated with striking accumulations and excess excretion of haem pathway intermediates and their oxidised products. Erythropoietic porphyrias usually present in childhood and hepatic porphyrias during adult life. The three most common porphyrias, are porphyria cutanea tarda, acute intermittent porphyria and erythropoietic protoporphyria. 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, but quite differently. All porphyrias are inherited, with the exception of porphyria cutanea tarda, which is mostly due to an acquired enzyme deficiency in the liver.

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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, SP 14049-900, Ribeirao Preto, Brazil

    Charles Marquez Lourenço

  2. Department of Preventive Medicine and Community Health, The University of Texas Medical Branch, 301 University Boulevard, TX 77555-1109, Galveston, USA

    Karl E. Anderson

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Correspondence to Charles Marquez Lourenço or Karl E. Anderson .

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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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Lourenço, C.M., Anderson, K.E. (2016). Disorders of Haem Biosynthesis. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_36

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