About The Medical Condition Alpha-Lipoprotein Deficiency Disease, Familial

ClusterMed
  1. ClusterMed.info
  2. Medical Conditions
  3. A Illnesses And Diseases
  4. Al
  5. Alpha-Lipoprotein Deficiency Disease, Familial

Find the definition of the medical term Alpha-Lipoprotein Deficiency Disease, Familial. Alpha-Lipoprotein Deficiency Disease, Familial defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Alpha-Lipoprotein Deficiency Disease, Familial

Alpha-Lipoprotein Deficiency Disease, Familial Medical Condition Defined & Explained
Alpha-Lipoprotein Deficiency Disease, Familial Medical Condition

What's The Definition Of The Medical Condition Alpha-Lipoprotein Deficiency Disease, 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