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Orexin (/ ɒ ˈ r ɛ k s ɪ n /), also known as hypocretin, is a neuropeptide that regulates arousal, wakefulness, and appetite. [5] It exists in the forms of orexin-A and orexin-B.The most common form of narcolepsy, type 1, in which the individual experiences brief losses of muscle tone ("drop attacks" or cataplexy), is caused by a lack of orexin in the brain due to destruction of the cells ...
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase , the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle , responsible for converting carbamoyl phosphate and ornithine into citrulline .
Orexin, otherwise known as hypocretin, is a neuropeptide that acts within the brain to regulate appetite and wakefulness as well as a number of other cognitive and physiological processes. [27] [38] [39] Loss of these orexin-producing neurons causes narcolepsy and most individuals with narcolepsy have a reduced number of these neurons in their ...
The lateral hypothalamus (LH), also called the lateral hypothalamic area (LHA), [1] contains the primary orexinergic nucleus within the hypothalamus that widely projects throughout the nervous system; [2] this system of neurons mediates an array of cognitive and physical processes, such as promoting feeding behavior and arousal, reducing pain perception, and regulating body temperature ...
An orexin receptor antagonist, or orexin antagonist, is a drug that inhibits the effect of orexin by acting as a receptor antagonist of one (selective orexin receptor antagonist or SORA) or both (dual orexin receptor antagonis or DORA) of the orexin receptors, OX 1 and OX 2. [1] Medical applications include treatment of sleep disorders such as ...
Cataplexy is the first symptom to appear in about 10% of cases of narcolepsy, [2] caused by an autoimmune destruction of hypothalamic neurons that produce the neuropeptide hypocretin (also called orexin), which regulates arousal and has a role in stabilization of the transition between wake and sleep states. [3]
XDH deficiency Xanthine dehydrogenase deficiency XDP X-linked dystonia-parkinsonism XDR TB Extensively drug-resistant tuberculosis: XHED X-linked hypohidrotic ectodermal dysplasia: XLMTM X-linked myotubular myopathy: XLOS X-linked Opitz G/BBB syndrome XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA
Symptoms of OAT deficiency are progressive, and between the ages of 45 and 65, most affected individuals are almost completely blind. [ 3 ] In some cases, affected individuals will present in the neonatal period with disease that closely mimics a classic urea cycle defect, such as ornithine transcarbamylase deficiency , as the block in ...