Biomaterial Database

Abrnomal lipoprotein patterns in human serum as determined by agarose gel electrophoresis. 1979

N M Papadopoulos

Two groups of abnormal electrophoretic patterns of serum lipoproteins are reported here. One demonstrates a deficiency or absence of lipoprotein fractions, which is characteristic of patients with abeta-lipoproteinemia, hypo-beta-lipoproteinemia, or Tangier disease. The other shows the presence of extra lipoprotein fractions, as found in cholestasis and multiple myeloma. These patterns, together with those of hyperlipoproteinemia phenotypes previously reported (Clin. Chem. 24:227, 1978), form a reference record and a basis for the detection and evaluation of lipoprotein abnormalities in normal and dyslipoproteinemic subjects, as determined by a sensitive, accurate, rapid, and inexpensive electrophoretic technique.

UI	MeSH Term	Description	Entries
D006995	Hypobetalipoproteinemias	Conditions with abnormally low levels of BETA-LIPOPROTEINS (low density lipoproteins or LDL) in the blood. It is defined as LDL values equal to or less than the 5th percentile for the population. They include the autosomal dominant form involving mutation of the APOLIPOPROTEINS B gene, and the autosomal recessive form involving mutation of the microsomal triglyceride transfer protein. All are characterized by low LDL and dietary fat malabsorption.	Familial Hypobetalipoproteinemia,Hypo beta Lipoproteinemia,Hypobetalipoproteinemia,Hypo beta Lipoproteinemias
D008074	Lipoproteins	Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.	Circulating Lipoproteins,Lipoprotein,Lipoproteins, Circulating
D009101	Multiple Myeloma	A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.	Myeloma, Plasma-Cell,Kahler Disease,Myeloma, Multiple,Myeloma-Multiple,Myelomatosis,Plasma Cell Myeloma,Cell Myeloma, Plasma,Cell Myelomas, Plasma,Disease, Kahler,Multiple Myelomas,Myeloma Multiple,Myeloma, Plasma Cell,Myeloma-Multiples,Myelomas, Multiple,Myelomas, Plasma Cell,Myelomas, Plasma-Cell,Myelomatoses,Plasma Cell Myelomas,Plasma-Cell Myeloma,Plasma-Cell Myelomas
D004587	Electrophoresis, Agar Gel	Electrophoresis in which agar or agarose gel is used as the diffusion medium.	Electrophoresis, Agarose Gel,Agar Gel Electrophoresis,Agarose Gel Electrophoresis,Gel Electrophoresis, Agar,Gel Electrophoresis, Agarose
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000012	Abetalipoproteinemia	An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.	Bassen-Kornzweig Syndrome,Microsomal Triglyceride Transfer Protein Deficiency,Acanthocytosis,Bassen-Kornzweig Disease,Betalipoprotein Deficiency Disease,Microsomal Triglyceride Transfer Protein Deficiency Disease,Acanthocytoses,Bassen Kornzweig Disease,Bassen Kornzweig Syndrome,Betalipoprotein Deficiency Diseases,Deficiency Disease, Betalipoprotein,Deficiency Diseases, Betalipoprotein,Disease, Betalipoprotein Deficiency,Diseases, Betalipoprotein Deficiency
D013631	Tangier Disease	An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.	A-alphalipoprotein Neuropathy,Analphalipoproteinemia,Tangier Disease Neuropathy,Alpha High Density Lipoprotein Deficiency Disease,Cholesterol Thesaurismosis,HDLDT1,High Density Lipoprotein Deficiency, Tangier Type,High Density Lipoprotein Deficiency, Type 1,High-Density Lipoprotein Deficiency, Tangier Type,High-Density Lipoprotein Deficiency, Type I,Neuropathy of Tangier Disease,Tangier Hereditary Neuropathy,A-alphalipoprotein Neuropathies,Analphalipoproteinemias,Cholesterol Thesaurismoses,High Density Lipoprotein Deficiency, Type I,Neuropathies, A-alphalipoprotein,Neuropathy, A-alphalipoprotein,Thesaurismoses, Cholesterol,Thesaurismosis, Cholesterol