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Disorders of Glucose and Monocarboxylate Transporters

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Inborn Metabolic Diseases

Abstract

To date, five congenital defects of glucose transporters are known. The clinical picture depends on tissue-specific expression and substrate specificity of the affected transporter. SGLT1 deficiency causes intestinal glucose-galactose malabsorption, a condition that presents with severe osmotic diarrhoea and dehydration soon after birth. In renal glucosuria, a harmless renal transport defect characterised by glucosuria at normal blood glucose concentrations as well as the absence of any other signs of renal tubular dysfunction, SGLT2, or very rarely, a membrane-associated protein (MAP17) is affected. In GLUT1 deficiency syndrome, clinical symptoms such as microcephaly, epileptic encephalopathy, and paroxysmal movement disorders are caused by impaired glucose transport at the blood-brain barrier and into astrocytes. A defect in a proton-associated sugar transporter (PAST-A) of neurons can also result in neurologic but also in psychiatric symptoms. Fanconi-Bickel syndrome is the result of a deficiency of GLUT2, an important glucose and galactose carrier of hepatocytes, renal tubular and pancreatic β-cells. Patients typically present with a combination of increased hepatic glycogen storage and generalised renal tubular dysfunction with glucosuria as a pronounced feature.

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Notes

  1. 1.

    Note that numbering in MCT and SLC16 nomenclature do not match.

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Authors and Affiliations

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

    René Santer

  2. Children’s Hospital, Aschaffenburg, Germany

    Joerg Klepper

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  1. René Santer
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Correspondence to René Santer .

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Editors and Affiliations

  1. Paris, France

    Jean-Marie Saudubray

  2. Division of Metabolism, University Children’s Hospital, University of Zurich, Zurich, Switzerland

    Matthias R. Baumgartner

  3. Servicio de Neurologia, Hospital Sant Joan de Deu, Barcelona, Barcelona, Spain

    Ángeles García-Cazorla

  4. Developmental Biology and Medicine, School of Medical Sciences, University of Manchester, Manchester, UK

    John Walter

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Santer, R., Klepper, J. (2022). Disorders of Glucose and Monocarboxylate Transporters. In: Saudubray, JM., Baumgartner, M.R., García-Cazorla, Á., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-63123-2_8

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