Die generalisierte Lipodystrophie 1 ist eine autosomal rezessive Erkrankung, die durch Mutationen des AKT2-Gens hervorgerufen wird. Sie ist durch eine Abnahme von Fettgewebe am ganzen Körper charakterisiert, die schon bei der geburt oder infrüher Kindheit sichtbar wird. Gleichzeitig besteht eine Insulinresistenz. Weitere wichtige klinische merkmale sind Acanthosis nigricans, muskuläre Hypertrophie, Hepatomegalie, gestörte Glukosetoleranz und Diabetes mellitus sowie Hypertriglyceridämie.
Generalisierte Lipodystrophie | ||||
Generalisierte Lipodystrophie Typ 1 | ||||
AGPAT2 | ||||
Kongenitale progressive Lipodystrophie Typ 2 | ||||
1. |
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34. |
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37. |
OMIM.ORG article Omim 608594 |