Die Norum-Krankheit ist eine autosomal rezessive Erkrankung die auf Mutationen des LCAT-Gens beruht. Die Erkrankung ist durch Hornhauttrübung, normochrome hämolytische Anämie und Schaumzellen im Knochenmark charakterisiert. Zu den typischen Laborbefunden zählen rhöhte Triglycerid-, Phospholipid und Cholestrolspiegel. Auch eine Proteinurie kann gefunden werden.
Biochemisch ist diese Erkrankung durch einen kompletten Ausfall des Enzyms Lecithin-cholesterol acyltransferase (LCAT) gekennzeichnet. Das betrifft sowohl die Funktion an den kleinen HDL-Partikeln, wo das ApoA1 der den Enzymaktivator bildet, wie auch an den großen ApoB-enthaltenden Lipoproteinen.
Die Therapie besteht in einer cholestrinarmen Diät und ggf. Bluttransfusionen zum Ausgleich der Anämie. Eine kausale Therapie ist mit der Lebertransplantation möglich.
Glomerulosklerose | ||||
Familiäre partielle Lipodystrophie Typ 2 | ||||
Fokal segmentale Glomerulosklerose (FSGS) | ||||
Frasier-Syndrom | ||||
Glycogenspeicherkrankheit 1A | ||||
Norum-Krankheit | ||||
LCAT | ||||
1. |
Taramelli R et al. (1990) Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele. |
2. |
Muthusethupathi MA et al. (1999) Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India. |
3. |
Ng DS et al. (1997) Disruption of the murine lecithin:cholesterol acyltransferase gene causes impairment of adrenal lipid delivery and up-regulation of scavenger receptor class B type I. |
4. |
Sakai N et al. (1997) Targeted disruption of the mouse lecithin:cholesterol acyltransferase (LCAT) gene. Generation of a new animal model for human LCAT deficiency. |
5. |
Hoeg JM et al. (1996) Overexpression of lecithin:cholesterol acyltransferase in transgenic rabbits prevents diet-induced atherosclerosis. |
7. |
Albers JJ et al. (1981) Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass. |
8. |
Utermann G et al. (1981) Lecithin-cholesterol-acyltransferase deficiency: autosomal recessive transmission in a large kindred. |
9. |
Albers JJ et al. (1981) Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency. |
10. |
Gjone E et al. (1981) Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway. |
11. |
Borysiewicz LK et al. (1982) Renal failure in familial lecithin: cholesterol acyltransferase deficiency. |
12. |
Albers JJ et al. (1982) Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: evidence for functionally defective enzyme in homozygotes and obligate heterozygotes. |
13. |
Sakuma M et al. (1982) Familial plasma lecithin: cholesterol acyltransferase deficiency. A new family with partial LCAT activity. |
14. |
Teisberg P et al. (1981) Genetic heterogeneity in familial lecithin:cholesterol acyltransferase (LCAT) deficiency. |
15. |
Gjone E et al. (1968) Familial plasma cholesterol ester deficiency. A study of the erythrocytes. |
16. |
Gotoda T et al. (1991) Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. |
18. |
Norum KR et al. (1974) Lecithin: cholesterol acyltransferase recent research on biochemistry and physiology of the enzyme. |
19. |
Norum KR et al. (1967) Familial serum-cholesterol esterification failure. A new inborn error of metabolism. |
20. |
Vergani C et al. (1983) A new case of familial LCAT deficiency. |
21. |
Teisberg P et al. (1975) Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency. |
22. |
Frohlich J et al. (1982) Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency. |
23. |
Weber P et al. (1987) Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient. |
24. |
Flatmark AL et al. (1977) Renal transplantation in patients with familial lecithin: cholesterol-acetyltransferase deficiency. |
25. |
Teisberg P et al. (1974) Probable linkage of LCAT locus in man to the alpha haptoglobin locus on chromosome 16. |
26. |
Nordöy A et al. (1971) Familial plasma lecithin: cholesterol acyltransferase deficiency. A study of the platelets. |
27. |
Gjone E et al. () Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome. |
28. |
Murayama N et al. (1984) Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin: cholesterol acyltransferase deficiency. |
29. |
Orphanet article Orphanet ID 650 |
30. |
OMIM.ORG article Omim 245900 |
31. |
Wikipedia Artikel Wikipedia DE (LCAT-Mangel) |