About The Medical Condition Lipoprotein Deficiency Disease, HDL, Familial
Find the definition of the medical term Lipoprotein Deficiency Disease, HDL, Familial. Lipoprotein Deficiency Disease, HDL, Familial defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Lipoprotein Deficiency Disease, HDL, Familial
Lipoprotein Deficiency Disease, HDL, Familial Medical Condition |
---|
What's The Definition Of The Medical Condition Lipoprotein Deficiency Disease, HDL, Familial?
A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II, and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Accesses, Facility ‐ Designs for approaching areas inside or outside…
- Veronal ‐ A long-acting barbiturate that depresses most metabolic processes…
- Puppet Children ‐ A syndrome characterized by multiple abnormalities, MENTAL RETARDATION,…
- Juvenile Absence Epilepsy ‐ A childhood seizure disorder characterized by rhythmic electrical…
- Flight Reactions ‐ Innate response elicited by sensory stimuli associated with a…
- Test, Speech Discrimination ‐ Tests of the ability to hear and understand speech as determined…
- Antisense DNA ‐ DNA that is complementary to the sense strand. (The sense strand…
- Denture, Partial, Temporary ‐ A partial denture intended for short-term use in a temporary…
- Alpha-Agonists, Adrenergic ‐ Drugs that selectively bind to and activate alpha adrenergic…
- Risk Appraisal, Health ‐ The measurement of the health status for a given population using…