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01.01.2015 | Complex Lipids

Human genetic disorders of sphingolipid biosynthesis

verfasst von: Leonardo Astudillo, Frédérique Sabourdy, Nicole Therville, Heiko Bode, Bruno Ségui, Nathalie Andrieu-Abadie, Thorsten Hornemann, Thierry Levade

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 1/2015

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Abstract

Monogenic defects of sphingolipid biosynthesis have been recently identified in human patients. These enzyme deficiencies affect the synthesis of sphingolipid precursors, ceramides or complex glycosphingolipids. They are transmitted as autosomal recessive or dominant traits, and their resulting phenotypes often replicate the abnormalities seen in murine models deficient for the corresponding enzymes. In quite good agreement with the known critical roles of sphingolipids in cells from the nervous system and the epidermis, these genetic defects clinically manifest as neurological disorders, including paraplegia, epilepsy or peripheral neuropathies, or present with ichthyosis. The present review summarizes the genetic alterations, biochemical changes and clinical symptoms of this new group of inherited metabolic disorders. Hypotheses regarding the molecular pathophysiology and potential treatments of these diseases are also discussed.

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Titel: Human genetic disorders of sphingolipid biosynthesis
verfasst von: Leonardo Astudillo
Frédérique Sabourdy
Nicole Therville
Heiko Bode
Bruno Ségui
Nathalie Andrieu-Abadie
Thorsten Hornemann
Thierry Levade
Publikationsdatum: 01.01.2015
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 1/2015
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-014-9736-1

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