Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Die Chylomikronämie ist eine Fettstoffwechselstörung mit massiv erhöhten Fettwerten (Triglyceride und Choleterol) im Blutplasma. In der Lipidelektrophrorese zeigen sich vor allem die großvolumigen Chylomikronen und das Blut trübt sich sofort stark ein.
Für den isolierten Lipoprotein-Lipase-Mangel (LPLD) steht eine Medikament zur Erprobung, Tiparvovec, welches in dem Muskel injiziert dort in den Zellen das fehlende LPL-gen ersetzt.
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OMIM.ORG article Omim 238600
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