Disorders of lipoid metabolism
- condition in which there is a deviation or interruption in the processing of lipids in the body: synthesis, absorption, transport, storage, and utilization.
Pure hypercholesterolemia
- characterized by increased plasma concentration of cholesterol carried in low density lipoproteins (LDL) and by a deficiency in a cell surface receptor which regulates LDL degradation and cholesterol synthesis.
Pure hyperglyceridemia
- characterized by an isolated elevation in the plasma level of endogenously synthesized triglyceride carried in VLDL; considered to be an autosomal dominant trait.
Mixed hyperlipidemia
Hyperchylomicronemia
- rare familial condition characterized by massive chylomicronemia and decreased levels of other lipoproteins; due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyzes an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood.
Other and unspecified hyperlipidemia
- excess of lipids in the blood.
- metabolic disease characterized by excess plasma lipoproteins, due to a disorder of lipoprotein metabolism; may be acquired or familial.
Lipoprotein deficiencies
- disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of apolipoprotein B and apoB containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired.
- presence of abnormally low levels of lipoproteins in the serum.
Lipodystrophy
- collection of rare conditions resulting from defective fat metabolism and characterized by atrophy of the subcutaneous fat; includes total, congenital or acquired, partial, abdominal infantile, and localized lipodystrophy.
Lipidoses
- x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.
- autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons.
- rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts containing a large number of dark inclusions which fill the central part of the cytoplasm except for the juxtanuclear zone (I cells), and clinically by severe growth impairment, minimal hepatomegaly, extreme mental and motor retardation, and clear corneas; inherited as an autosomal recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes.
- disturbance of lipid metabolism with abnormal deposit of lipids in the cells.
- caused by deficiency of sphingomyelinase, resulting in accumulation of sphingomyelin in the reticuloendothelial system, mental and physical retardation, enlarged liver and spleen, anemia, and blindness.
- severe infantile form of inherited lysosomal lipid storage disease due to deficiency of acid lipase; results in accumulation of neutral lipids, particularly cholesterol esters, within cells.
- Intestinal fat transport defect with hypobetalipoproteinemia and accumulation of apolipoprotein B-like protein in intestinal cells, deficient blood apolipoproteins, and avitaminosis E manifested by malnutrition, steatorrhea, and growth and mental retardation. Some clinical (but not biochemical) manifestations may disappear later in life.
Other disorders of lipoid metabolism
- A neoplastic process characterized by a symmetric poorly circumscribed overgrowth of adipose tissue in the neck. It predominantly affects middle age men of Mediterranean origin.
- A systemic disease, often associated with arthritis, fever, and weight loss. The cutaneous lesions consist of histiocytes, which are usually confined to the dermis. A large number of patients develop malignant tumors (carcinomas, sarcomas, and lymphomas). --2003
Unspecified disorder of lipoid metabolism
- condition in which there is a deviation or interruption in the processing of lipids in the body: synthesis, absorption, transport, storage, and utilization.
