Catecholamine:Pronounced cat·e·chol·amine. An amine derived from theamino acidtyrosine-- examples includeepinephrine(adrenaline),去甲肾上腺素(noradrenaline), anddopamine-- that act as hormones or neurotransmitters. There are a number of disorders involving catecholamines, including neuroblastoma, pheochromocytoma, chemodectina, thefamilialparagangliomasyndrome, dopamine-ß-hydroxalase deficiency, and tetrahydrobiopterin deficiency
Neuroblastomais the second most common solid tumorinchildhood(after brain tumors). It usually produce catecholamines. Thecatecholamine代谢物vanillylmandelic酸了nd homovanillic acid can be measured quantitatively in theurineas a test for thedisease.
Pheochromocytomais abenigntumor derived from theadrenal medullaor sympathetic paraganglia. The tumor secretes epinephrine and norepinephrine. These catecholamines cause attacks of hypertension, headache, nausea and vomiting,sweating, pallor and severe apprehension.
Chemodectomais another benign tumor of the chemoreceptor system, the most common types being thecarotid bodytumor and the glomus jugulare tumor. Also known as nonchromaffin paraganglioma.
Familial paraganglioma syndromeis an unusual familial disease involving slow-growing benign tumors -- paragangliomas, glomus tumors, or chemodectomas -- predominantly in the head andneckregion. Thegenefor the disease is onchromosome11q23. The tumors may lead to disfiguring local swellings,cranialnerveinjury, or involvement of the base of theskulland may causedysphonia,aspiration, hearing loss, dysphagia, tinnitus, pain, persistent cough, andshoulderweakness (due to tumor encroachment oncranial nerves). All individuals with hereditary paragangliomas inherit the disease gene from theirfather. This is consistent withgenomic imprinting: the maternally derived gene is inactivated duringoogenesisand can be reactivated only duringspermatogenesis.
Dopamine-ß-hydroxalase deficiencyis acongenitalform of severe orthostatic hypotension caused by complete absence of theenzymedopamine-ß-hydroxalase. During childhood impaired exercisetolerance, fatigue, and episodes of syncope (fainting) are common. Symptoms from orthostatic hypotension become worse in late adolescence and in early adulthood.
Tetrahydrobiopterin deficiencyis ageneticdefect ofenzymesrequired for thesynthesis(production) of catecholamines, resulting in a deficiency in neurotransmitters. Symptoms begin between two and eight months of age, and include unstable bodytemperature, swallowing difficulties, hypersalivation, pinpoint pupils,ptosisof the eyelids, decreased mobility, drowsiness, and irritability.
