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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.

Konno T et al. (1966) Wolman's disease: the first case in Japan.

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2.

Chatterjee S et al. (1986) Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency.

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3.

Sloan HR et al. (1972) Enzyme deficiency in cholesteryl ester storage idisease.

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4.

None (1971) Histochemical detection of the enzyme deficiency in blood films in Wolman's disease.

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5.

Lake BD et al. (1970) Wolman's disease: deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomes.

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6.

Lough J et al. (1970) Wolman's disease. An electron microscopic, histochemical, and biochemical study.

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7.

Young EP et al. (1970) Deficiency of acid esterase activity in Wolman's disease.

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8.

Schiff L et al. (1968) Hepatic cholesterol ester storage disease, a familial disorder. I. Clinical aspects.

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9.

Kahana D et al. (1968) Primary familial xanthomatosis with adrenal involvement (Wolman's disease). Report of a further case with nervous system involvement and pathogenetic considerations.

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10.

Marshall WC et al. (1969) Wolman's disease. A rare lipidosis with adrenal calcification.

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11.

Patrick AD et al. (1969) Deficiency of an acid lipase in Wolman's disease.

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12.

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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13.

Hoeg JM et al. (1984) Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency.

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14.

Besley GT et al. (1984) Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis.

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15.

Burton BK et al. (1981) Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.

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16.

Christomanou H et al. (1981) Prenatal monitoring for Wolman's disease in a pregnancy at risk: first case in the Federal Republic of Germany.

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17.

Schaub J et al. (1980) Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.

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18.

Du H et al. (1998) Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.

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19.

Du H et al. (2001) Enzyme therapy for lysosomal acid lipase deficiency in the mouse.

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20.

WOLMAN M et al. (1961) Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant.

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21.

CROCKER AC et al. (1965) WOLMAN'S DISEASE: THREE NEW PATIENTS WITH A RECENTLY DESCRIBED LIPIDOSIS.

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22.

Burton BK et al. (2015) A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

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23.

Desai PK et al. (1987) Cholesteryl ester storage disease: pathologic changes in an affected fetus.

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24.

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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25.

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

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26.

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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27.

Aslanidis C et al. (1994) Genomic organization of the human lysosomal acid lipase gene (LIPA).

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28.

Anderson RA et al. (1994) Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

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29.

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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30.

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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31.

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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32.

Maslen CL et al. (1995) Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

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33.

Aslanidis C et al. (1996) Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.

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34.

Pagani F et al. (1996) Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.

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35.

Fujiyama J et al. (1996) A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.

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36.

Lee TM et al. (2011) Intragenic deletion as a novel type of mutation in Wolman disease.

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37.

Coates PM et al. (1978) Prenatal diagnosis of Wolman disease.

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38.

Byrd JC et al. (1979) Wolman's disease: ultrastructural evidence of lipid accumulation in central and peripheral nervous systems.

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39.

Beaudet AL et al. (1977) Cholesterol ester storage disease: clinical, biochemical, and pathological studies.

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40.

Röyttä M et al. (1992) Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases.

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41.

Yokoyama S et al. (1992) Long-term treatment of a homozygous cholesteryl ester storage disease with combined cholestyramine and lovastatin.

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42.

Di Bisceglie AM et al. (1990) Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin.

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43.

Cagle PT et al. (1986) Pulmonary hypertension in an 18-year-old girl with cholesteryl ester storage disease (CESD)

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44.

OMIM.ORG article

Omim 278000 external link
45.

Orphanet article

Orphanet ID 275761 external link
Update: 14. August 2020
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