IllnessMorbus Wolman, Cholesterol ester storage disease
Summary
Curated single gene sequence analysis according to the clinical suspicion Morbus Wolman
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
LIPA | 1200 | NM_000235.4 | AR |
Informations about the disease
Lysosomal acid lipase deficiency is a hereditary disease characterized by impaired lipid metabolism. Lipids accumulate in the cells of the organism, leading, among other things, to liver afflictions. In the severe, early-onset form (Wolman's disease), lipid accumulation occurs within the first weeks of life, with hepatosplenomegaly, jaundice, steatorrhea and malabsorption, later cirrhosis and multiple organ failure, with survival rarely exceeding the first year year. In the later-onset form (cholesterol ester storage disease), symptoms vary and usually begin in middle childhood with hepatosplenomegaly, liver fibrosis or cirrhosis. Individuals with this form may have elevated serum levels of liver enzymes and high cholesterol as well as atherosclerosis. Both disorders have the same genetic cause, mutations in the LIPA gene. The severity of the disease depends on how much (residual) enzyme activity is present. The inability of the organism to produce cholesterol from the breakdown of lipids leads to increased alternative methods of cholesterol production and to higher than average blood cholesterol levels. Lysosomal acid lipase deficiency is inherited in an autosomal recessive manner; more than 120 mutations are known, but the diagnostic yield is unclear. Enzyme replacement therapy with sebelipase alfa has been established.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK305870/
- Alias: Cholesterol ester hydrolase deficiency (LIPA)
- Alias: Cholesterol ester storage disease [later onset forms] (LIPA)
- Alias: LIPA deficiency, LAL deficiency (LIPA)
- Alias: Lysosomale saure Lipase-Defizienz (LIPA)
- Alias: Wolman disease, infantile-onset form (LIPA)
- Cholesterol ester storage disease (LIPA)
- AR
Bioinformatics and clinical interpretation
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