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Disorders of Heme Biosynthesis

  • Chapter
Inborn Metabolic Diseases

Abstract

X-linked sideroblastic anemia is due to a deficiency of the erythroid form of the first enzyme in the heme biosynthetic pathway, 5-aminolevulinic acid synthase. Characteristics of the disease are variable, but typically include adult onset anemia, ineffective erythropoiesis with formation of ring sideroblasts, iron accumulation and pyridoxine responsiveness.

Porphyrias are metabolic disorders due to deficiencies of other enzymes of this pathway, and are associated with striking accumulations and excess excretion of heme pathway intermediates and their oxidized products. Symptoms and signs of the porphyrias are almost all due to effects on the nervous system or skin. The three most common porphyrias, acute intermittent porphyria, porphyria cutanea tarda and erythropoietic protoporphyria, differ considerably from each other. The first presents with acute neurovisceral symptoms and can be aggravated by some drugs, hormones and nutritional changes, and is treated with intravenous heme and carbohydrate loading. The skin is affected in the latter two although the lesions are usually distinct and treatment is different. Porphyrias are more often manifest in adults than are most metabolic diseases. All porphyrias are inherited, with the exception of porphyria cutanea tarda, which is due to an acquired enzyme deficiency in liver, although an inherited deficiency is a predisposing factor in some cases.

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Author information

Authors and Affiliations

  1. Department of Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA

    Norman G. Egger

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

    Chul Lee & Karl E. Anderson

Authors
  1. Norman G. Egger
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  2. Chul Lee
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  3. Karl E. Anderson
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Editor information

Editors and Affiliations

  1. Department of Pediatrics, University Hospital Groningen, Burgemeester Weertslaan 31, 8162 DP, Epe, The Netherlands

    John Fernandes

  2. Unité de Métabolisme, Département de Pédiatrie, Hôpital Necker Enfants Malades, 149 Rue de Sèvres, 75043, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Metabolic Research Group, Christian de Duve Institute of Cellular Pathology, University of Louvain Medical School, Avenue Hippocrate 75-39, 1200, Brussels, Belgium

    Georges van den Berghe

  4. Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Hospital Road, Pendlebury, Manchester, M27 4HA, UK

    John H. Walter

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© 2006 Springer Medizin Verlag Heidelberg

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Egger, N.G., Lee, C., Anderson, K.E. (2006). Disorders of Heme Biosynthesis. In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_36

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  • DOI: https://doi.org/10.1007/978-3-540-28785-8_36

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-28783-4

  • Online ISBN: 978-3-540-28785-8

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