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Disorders of Glucose Transport

  • Chapter
Inborn Metabolic Diseases

Zusammenfassung

To date, five congenital defects of monosaccharide transporters (Glucose Transporters) are known (Fig. 10.1). Their clinical picture depends on tissue-specific expression and substrate specificity of the affected transporter (Box). SGLT1 deficiency causes intestinal glucose-galactose malabsorption, a condition that presents with severe osmotic diarrhoea and dehydration soon after birth. SGLT2 mutations result in isolated renal glucosuria, a harmless renal transport defect characterised by normal blood glucose concentrations and the absence of any other signs of renal tubular dysfunction. In GLUT1 deficiency, also termed glucose transporter-1 deficiency, clinical symptoms such as microcephaly, epileptic encephalopathies, paroxysmal movement disorders or different types of tremor, are caused by impaired glucose transport at the blood-brain barrier, but haemolytic anaemia has also been described in this condition. Fanconi-Bickel syndrome is the result of a deficiency of GLUT2, an important glucose and galactose carrier of hepatic, renal and pancreatic β-cells. Patients typically present with a combination of increased hepatic glycogen storage and generalised renal tubular dysfunction which includes severe glucosuria. Finally, GLUT10 deficiency is an entity characterised by hyperelastic connective tissue and generalised tortuosity and elongation of all major arteries including the aorta which is not related to impaired transport of glucose but of the structurally related dehydroascorbic acid at the mitochondrial membrane of smooth muscle cells and insulin-stimulated adipocytes.

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Authors and Affiliations

  1. Department of Pediatrics, University Medical Centre Hamburg Eppendorf, Martinistraße 52, 20246, Hamburg, Germany

    René Santer

  2. Children’s Hospital, Am Hasenkopf 1, 63739, Aschaffenburg, Germany

    Joerg Klepper

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  1. René Santer
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  2. Joerg Klepper
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Correspondence to René Santer or Joerg Klepper .

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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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Santer, R., Klepper, J. (2016). Disorders of Glucose Transport. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_10

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_10

  • Publisher Name: Springer, Berlin, Heidelberg

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