RILEY DAY SYNDROME
\ɹˈa͡ɪli dˈe͡ɪ sˈɪndɹə͡ʊm], \ɹˈaɪli dˈeɪ sˈɪndɹəʊm], \ɹ_ˈaɪ_l_i d_ˈeɪ s_ˈɪ_n_d_ɹ_əʊ_m]\
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An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4 (2):160-4)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
- ril
- rile
- riled
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- riley b king
- Riley Day Syndrome
- riley virus
- rilievo
- riling
- rilke
- rill