Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Chylomikronämie

Die Chylomikronämie ist eine Fettstoffwechselstörung mit massiv erhöhten Fettwerten (Triglyceride und Choleterol) im Blutplasma. In der Lipidelektrophrorese zeigen sich vor allem die großvolumigen Chylomikronen und das Blut trübt sich sofort stark ein.

Management

Für den isolierten Lipoprotein-Lipase-Mangel (LPLD) steht eine Medikament zur Erprobung, Tiparvovec, welches in dem Muskel injiziert dort in den Zellen das fehlende LPL-gen ersetzt.

Gliederung

Hyperlipämie
Chylomikronämie
APOA5
APOC2
APOE
GPIHBP1
LPL
Familiäre kombinierte Hyperlipämie
Hypercholesterinämie
Hypertriglyceridämie
Mangel an lysosomaler saurer Lipase

Referenzen:

1.

Heaney AP et al. (1999) Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy.

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2.

BOGGS JD et al. (1957) The genetic mechanism of idiopathic hyperlipemia.

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3.

HAVEL RJ et al. (1960) Idiopathic hyperlipemia: metabolic studies in an affected family.

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4.

Kawashiri MA et al. (2005) Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.

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5.

Henderson HE et al. (1991) Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

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6.

Sternowsky HJ et al. (1977) Juvenile familial hypertriglyceridemia and growth retardation. Clinical and biochemical observations in three siblings.

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7.

Emi M et al. (1990) Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.

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8.

Franklin SM et al. (1937) Splenomegaly with Lipaemia.

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9.

Auwerx JH et al. (1989) Defective enzyme protein in lipoprotein lipase deficiency.

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10.

Eckel RH et al. (1989) Lipoprotein lipase. A multifunctional enzyme relevant to common metabolic diseases.

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11.

Berger GM et al. (1987) An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia.

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12.

Nevin NC et al. (1968) Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.

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13.

Breckenridge WC et al. (1978) Hypertriglyceridemia associated with deficiency of apolipoprotein C-II.

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14.

Wessler S et al. (1969) Classification and management of familial hyperlipoproteinemia.

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15.

Hoeg JM et al. (1983) Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man.

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16.

Brunzell JD et al. (1980) Heterogeneity of primary lipoprotein lipase deficiency.

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17.

Cantin B et al. (1995) Hemolysis in primary lipoprotein lipase deficiency.

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18.

Feoli-Fonseca JC et al. (1998) Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study.

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