Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Sitosterolämia

Die Sitosterolämia ist eine autosomal rezessive Erkrankung, die durch Mutationen in deb beiden Genen ABCG5 und ABCG8 hervorgerufen wird. Die Erkrankung ist durch eine ungehemmte enterale Aufnahme von Cholesterol und anderen cholesterinähnlichen pflanzlichen Verbindungen charakterisiert. Im Verlauf kommt es zu Sehnenxanthomen und zu einer früh einsetzenden und rasch progredienten arteriosklerotischen Gefäßerkrankung.

Gliederung

Lebensmittelunverträglichkeiten
Eosinophile Peroxidase-Mangel
Erwachsenentyp der Laktoseintoleranz
Fruktose Malabsorption
Fruktose-1,6-Bisphosphatase-Mangel
Fruktoseintoleranz
Fruktosurie
Glucose-Galactose-Malabsorption
Histamin-Intoleranz
Lactasemangel
Lysinurische Proteinintoleranz
Mastzell-Aktivierungs-Syndrom
Sitosterolämia
ABCG5
ABCG8
Trehalasemangel

Referenzen:

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2.

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3.

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6.

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8.

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18.

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20.

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21.

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22.

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23.

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24.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

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25.

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26.

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29.

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32.

None (1975) Mediterranean macrothrombocytopenia.

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34.

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35.

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36.

Beaty TH et al. (1986) Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.

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37.

Salen G et al. (1985) Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis.

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38.

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39.

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40.

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41.

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42.

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43.

None (1980) Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis.

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44.

Wang C et al. (1981) A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia.

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45.

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46.

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47.

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48.

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49.

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50.

None (2003) Images in clinical medicine. Phytosterolemia and xanthomatosis.

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51.

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52.

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53.

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54.

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55.

OMIM.ORG article

Omim 210250 [^]
56.

Orphanet article

Orphanet ID 2882 [^]
Update: 10. Mai 2019