Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Wolman-Erkrankung

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.

Management

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

Gliederung

Lysosomale Speicherkrankheiten
Cystinose
Infantile Sialinsäurespeicherkrankheit
Mangel an lysosomaler saurer Lipase
Morbus Fabry
Salla Erkrankung
Wolman-Erkrankung
LIPA

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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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5.

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

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6.

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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7.

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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8.

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

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9.

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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10.

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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11.

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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12.

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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13.

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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14.

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

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15.

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

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16.

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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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.

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

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19.

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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20.

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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21.

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

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22.

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

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23.

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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24.

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

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25.

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

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26.

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

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27.

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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28.

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

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29.

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

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30.

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

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31.

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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32.

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

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33.

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

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34.

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

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35.

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

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36.

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

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37.

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

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38.

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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39.

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

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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.

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

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42.

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

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43.

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

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Update: 26. September 2018