Die Wolman-Erkrankung ist eine bereits im Kleinkindesalter einsetzende schwer verlaufende autosomal rezessive Erkrankung. Die Erkrankung wird durch Mutationen der lysosomalen sauren Lipase ausgelöst. Durch den Mangel dieses Enzyms können Cholesterinester in den Lysosomen nicht mehr abgebaut werden und akkumulieren. Diese lysosomale Speicherkrankheit führt im weiteren zu einer Gewebs- und Organzerstörung besonders in der Leber und den Nebennieren. Betroffene überleben nicht das erste Lebensjahr, wenn nicht durch hematopoetische Stammzelltranplantation behandelt.
Zur Therapie steht das Kanuma® (sebelipase alfa) zur Verfügung.
Lysosomale Speicherkrankheiten | ||||
Chediak-Higashi-Syndrom | ||||
Cystinose | ||||
Infantile Sialinsäurespeicherkrankheit | ||||
Mangel an lysosomaler saurer Lipase | ||||
Morbus Fabry | ||||
Salla Erkrankung | ||||
Wolman-Erkrankung | ||||
LIPA | ||||
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OMIM.ORG article Omim 278000 |
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Orphanet article Orphanet ID 75233 |
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Wikipedia Artikel Wikipedia DE (Wolman-Krankheit) |