Biomaterial Database

Hereditary plasma lecithin-cholesterol acyl transferase deficiency: a heterozygous variant with erythrocyte membrane abnormalities. 1982

S K Jain, and N Mohandas, and G F Sensabaugh, and A M Shojania, and S B Shohet

LCAT esterifies cholesterol to cholesterol ester. This study describes a family with plasma LCAT deficiency with a heterozygous variant. It was found that both parents and one son had half the normal plasma LCAT activity whereas their only daughter and other son exhibited zero plasma LCAT activity, suggesting an autosomal co-dominant inheritance of the enzyme deficiency. Erythrocyte membrane abnormalities (e.g., increased erythrocyte PC and cholesterol) that were associated with patients with zero plasma LCAT were also observed in family members with half the LCAT. Additionally, erythrocytes from LCAT-deficient individuals were more susceptible to peroxidant threat and had membranes that were more mechanically unstable than those from individuals with normal plasma LCAT activity.

UI	MeSH Term	Description	Entries
D007009	Hypolipoproteinemias	Conditions with abnormally low levels of LIPOPROTEINS in the blood. This may involve any of the lipoprotein subclasses, including ALPHA-LIPOPROTEINS (high-density lipoproteins); BETA-LIPOPROTEINS (low-density lipoproteins); and PREBETA-LIPOPROTEINS (very-low-density lipoproteins).	Hypolipoproteinemia,Hypoprebetalipoproteinemia
D007863	Lecithin Cholesterol Acyltransferase Deficiency	An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.	Dyslipoproteinemic Corneal Dystrophy,Fish-Eye Disease,LCAT Deficiency,LCATA Deficiency,Lecithin:Cholesterol Acyltransferase Deficiency,Norum Disease,alpha-LCAT Deficiency,alpha-Lecithin-Cholesterol Acyltransferase Deficiency,alpha-Lecithin:Cholesterol Acyltransferase Deficiency,Acyltransferase Deficiency, Lecithin:Cholesterol,Corneal Dystrophy, Dyslipoproteinemic,Deficiency, LCAT,Deficiency, alpha-LCAT,Fish Eye Disease,LCATA Deficiencies,alpha LCAT Deficiency
D008055	Lipids	A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)	Lipid
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010713	Phosphatidylcholines	Derivatives of PHOSPHATIDIC ACIDS in which the phosphoric acid is bound in ester linkage to a CHOLINE moiety.	Choline Phosphoglycerides,Choline Glycerophospholipids,Phosphatidyl Choline,Phosphatidyl Cholines,Phosphatidylcholine,Choline, Phosphatidyl,Cholines, Phosphatidyl,Glycerophospholipids, Choline,Phosphoglycerides, Choline
D002784	Cholesterol	The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.	Epicholesterol
D004909	Erythrocyte Indices	ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).	Erythrocyte Hemoglobin, Mean Cell,Erythrocyte Size Determination,Erythrocyte Volume, Mean Cell,Hemoglobin, Erythrocyte, Mean Cell,Mean Corpuscular Volume,Red Cell Indices,Erythrocyte Diameter,Erythrocyte Index,Erythrocyte Indexes,Erythrocyte Thickness,Mean Cell Hemoglobin Concentration,Mean Cell Volume,Mean Corpuscular Hemoglobin,Mean Corpuscular Hemoglobulin Concentration,Red Cell Distribution Width,Red Cell Index,Red Cell Indexes,Cell Volumes, Mean,Corpuscular Volumes, Mean,Determination, Erythrocyte Size,Determinations, Erythrocyte Size,Diameter, Erythrocyte,Diameters, Erythrocyte,Erythrocyte Diameters,Erythrocyte Size Determinations,Hemoglobin, Mean Corpuscular,Hemoglobins, Mean Corpuscular,Index, Erythrocyte,Index, Red Cell,Indexes, Erythrocyte,Indexes, Red Cell,Indices, Erythrocyte,Indices, Red Cell,Mean Cell Volumes,Mean Corpuscular Hemoglobins,Mean Corpuscular Volumes,Size Determination, Erythrocyte,Size Determinations, Erythrocyte,Thickness, Erythrocyte,Volume, Mean Cell,Volume, Mean Corpuscular,Volumes, Mean Cell,Volumes, Mean Corpuscular
D004910	Erythrocyte Membrane	The semi-permeable outer structure of a red blood cell. It is known as a red cell 'ghost' after HEMOLYSIS.	Erythrocyte Ghost,Red Cell Cytoskeleton,Red Cell Ghost,Erythrocyte Cytoskeleton,Cytoskeleton, Erythrocyte,Cytoskeleton, Red Cell,Erythrocyte Cytoskeletons,Erythrocyte Ghosts,Erythrocyte Membranes,Ghost, Erythrocyte,Ghost, Red Cell,Membrane, Erythrocyte,Red Cell Cytoskeletons,Red Cell Ghosts