Lipoprotein Deficiency Disease, HDL, Familial Medical Condition Defined & Explained

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)

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)

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