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.
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Albers JJ et al. (1982) Familial lecithin-cholesterol acyltransferase deficiency in a Japanese family: evidence for functionally defective enzyme in homozygotes and obligate heterozygotes.
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Sakuma M et al. (1982) Familial plasma lecithin: cholesterol acyltransferase deficiency. A new family with partial LCAT activity.
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Norum KR et al. (1967) Familial serum-cholesterol esterification failure. A new inborn error of metabolism.
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Vergani C et al. (1983) A new case of familial LCAT deficiency.
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Frohlich J et al. (1982) Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.
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Weber P et al. (1987) Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient.
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Flatmark AL et al. (1977) Renal transplantation in patients with familial lecithin: cholesterol-acetyltransferase deficiency.
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Teisberg P et al. (1974) Probable linkage of LCAT locus in man to the alpha haptoglobin locus on chromosome 16.
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Nordöy A et al. (1971) Familial plasma lecithin: cholesterol acyltransferase deficiency. A study of the platelets.
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Gjone E et al. () Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome.
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Murayama N et al. (1984) Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin: cholesterol acyltransferase deficiency.
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| 29. |
Orphanet article Orphanet ID 650
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| 30. |
OMIM.ORG article Omim 245900
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| 31. |
Wikipedia Artikel Wikipedia DE (LCAT-Mangel)
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