NEUROPATHY OF TANGIER DISEASE
\njuːɹˈɒpəθɪ ɒv tˈaŋɪə dɪzˈiːz], \njuːɹˈɒpəθɪ ɒv tˈaŋɪə dɪzˈiːz], \n_j_uː_ɹ_ˈɒ_p_ə_θ_ɪ_ ɒ_v t_ˈa_ŋ_ɪ__ə d_ɪ_z_ˈiː_z]\
Sort: Oldest first
-
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)
By DataStellar Co., Ltd
Word of the day
Snake's-head
- Guinea-hen flower; -- so called in England because its spotted petals resemble the scales of a snake's head.
Nearby Words
- neuropathie
- neuropathist
- neuropathogenesis
- neuropathology
- neuropathy
- Neuropathy of Tangier Disease
- neuropathy, hereditary and autonomic, type iii
- neuropathy, hereditary motor and sensory, type iv
- neuropathy, type i hereditary motor and sensory
- neuropathy, type ii hereditary motor and sensory
- neuropeptide