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Disorders of Cobalamin and Folate Transport and Metabolism

  • Chapter
Inborn Metabolic Diseases

Zusammenfassung

Patients with disorders of intracellular Cbl metabolism typically have serum Cbl levels within the reference range, although levels may be reduced in the cblF and cblJ disorders. Homocystinuria (Hcy) and hyperhomocysteinaemia, as well as megaloblastic anaemia and neurological disorders, are major clinical findings in patients with disorders of Cbl absorption and transport, as well as those with defects of cellular metabolism that affect synthesis of MeCbl. Inherited disorders of Cbl metabolism are divided into those involving absorption and transport and those involving intracellular utilisation. Severe B12 deficiency in newborn infants, which may occur in breast fed infants born to vegan mothers or those with sub-clinical pernicious anaemia, can result in a disorder that ranges from an elevation in serum concentration of propionylcarnitine detected by newborn screening, to one presenting with severe neonatal encephalopathy.

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Authors and Affiliations

  1. Department of Medical Genetics, McGill University Health Centre, 1001 Decarie Boulevard, H4A 3J1, Montreal, Quebec, Canada

    David Watkins

  2. Department of Medical Genetics, McGill University Health Centre, 1001 Decarie Boulevard, H4A 3J1, Montreal, Quebec, USA

    David S. Rosenblatt

  3. University Children’s Hospital, UKBB, Spitalstrasse 33, 4056, Basel, Switzerland

    Brian Fowler

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  1. David Watkins
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  2. David S. Rosenblatt
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  3. Brian Fowler
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Corresponding authors

Correspondence to David Watkins , David S. Rosenblatt or Brian Fowler .

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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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Watkins, D., Rosenblatt, D.S., Fowler, B. (2016). Disorders of Cobalamin and Folate Transport and Metabolism. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_27

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  • DOI: https://doi.org/10.1007/978-3-662-49771-5_27

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