Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Norum disease

Norum disease is an autosomal recessive disorder caused by mutations of the LCAT gene. Common symptoms are corneal opacities, hemolytic anemia, and xanthoma cells in the bone marrow. Typical laboratory findings include hight triglyceride, phospholipid, and cholesterol levels, often accompanied by proteinuria.

Pathogenesis

Biochemically the Norum-disease is characterized by a complete deficiency of the LCAT enzyme, which includes both the function activated by ApoA1 and directed to the HDL particles and the function at the large ApoB containing lipoprotein particles.

Management

Therapy of LCAT deficiency includes cholestrol restricted diet, blood transfusions where necessary, and liver transplantation.

Systematic

Glomerulosclerosis
Familial partial lipodystrophy type 2
Focal, segmental glomerulosclerosis (FSGS)
Frasier syndrome
Glycogen storage disease 1A
Norum disease
LCAT

References:

1.

Gotoda T et al. (1991) Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.

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2.

Taramelli R et al. (1990) Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.

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3.

Humphries SE et al. (1988) A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency.

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4.

Norum KR et al. (1974) Lecithin: cholesterol acyltransferase recent research on biochemistry and physiology of the enzyme.

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5.

Norum KR et al. (1967) Familial serum-cholesterol esterification failure. A new inborn error of metabolism.

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6.

Vergani C et al. (1983) A new case of familial LCAT deficiency.

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7.

Teisberg P et al. (1975) Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.

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8.

Frohlich J et al. (1982) Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.

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9.

Weber P et al. (1987) Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient.

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10.

Flatmark AL et al. (1977) Renal transplantation in patients with familial lecithin: cholesterol-acetyltransferase deficiency.

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11.

Teisberg P et al. (1974) Probable linkage of LCAT locus in man to the alpha haptoglobin locus on chromosome 16.

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12.

Nordöy A et al. (1971) Familial plasma lecithin: cholesterol acyltransferase deficiency. A study of the platelets.

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13.

Gjone E et al. () Familial serum cholesterol ester deficiency. Clinical study of a patient with a new syndrome.

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14.

Gjone E et al. (1968) Familial plasma cholesterol ester deficiency. A study of the erythrocytes.

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15.

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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16.

Teisberg P et al. (1981) Genetic heterogeneity in familial lecithin:cholesterol acyltransferase (LCAT) deficiency.

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17.

Sakuma M et al. (1982) Familial plasma lecithin: cholesterol acyltransferase deficiency. A new family with partial LCAT activity.

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18.

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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19.

Borysiewicz LK et al. (1982) Renal failure in familial lecithin: cholesterol acyltransferase deficiency.

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20.

Gjone E et al. (1981) Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway.

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21.

Albers JJ et al. (1981) Genetic control of lecithin-cholesterol acyltransferase (LCAT): measurement of LCAT mass in a large kindred with LCAT deficiency.

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22.

Utermann G et al. (1981) Lecithin-cholesterol-acyltransferase deficiency: autosomal recessive transmission in a large kindred.

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23.

Albers JJ et al. (1981) Familial lecithin-cholesterol acyltransferase: identification of heterozygotes with half-normal enzyme activity and mass.

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24.

Rader DJ et al. (1994) Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease.

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25.

Hoeg JM et al. (1996) Overexpression of lecithin:cholesterol acyltransferase in transgenic rabbits prevents diet-induced atherosclerosis.

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26.

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.

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27.

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.

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28.

Muthusethupathi MA et al. (1999) Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India.

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29.

Orphanet article

Orphanet ID 650 [^]
30.

OMIM.ORG article

Omim 245900 [^]
31.

Wikipedia article

Wikipedia EN (Lecithin_cholesterol_acyltransferase_deficiency) [^]
Update: April 29, 2019