Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mangel an lysosomaler saurer Lipase

Cholesterolester-Speicherkrankheit ist eine autosomal rezessive Erkrankung, die durch Mutationen des LIPA-Gens ausgelöst wird. Es ist eine lysosomale Speicherkrankheit mit Anreicherung von Cholesterolestern. Das Klinische Bild ist charakterisiert durch Hyperlipämie, erhöhte Leberenzyme, Hepatosplenomegalie und einer akzelerierten Arteriosklerose.

Management

Zur Therapie steht das Kanuma® (sebelipase alfa) zur Verfügung.

Gliederung

Hyperlipämie
Chylomikronämie
Familiäre kombinierte Hyperlipämie
Hypercholesterinämie
Hypertriglyceridämie
Mangel an lysosomaler saurer Lipase
LIPA

Referenzen:

1.

Anderson RA et. al. (1991) Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.

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2.

Koch G et. al. (1981) Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19.

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3.

Warner TG et. al. (1980) Separation and characterization of the acid lipase and neutral esterases from human liver.

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4.

Muntoni S et. al. (1995) Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).

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5.

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6.

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7.

Klima H et. al. (1993) A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.

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8.

Anderson RA et. al. (1993) In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.

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9.

Muntoni S et. al. (1996) A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations.

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10.

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11.

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12.

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13.

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14.

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15.

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16.

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21.

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22.

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23.

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24.

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25.

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26.

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29.

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30.

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31.

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32.

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33.

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34.

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35.

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36.

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37.

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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.

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