Catecholamine:Pronounced as cat-e-chol-a-mine, this refers to a type of amine originating from the amino acid tyrosine. Notable examples include norepinephrine (also known as noradrenaline) and others that function as hormones or neurotransmitters. Disorders related to catecholamines encompass conditions such as neuroblastoma, chemodectoma, paraganglioma syndrome, dopamine-β-hydroxylase deficiency, and tetrahydrobiopterin deficiency.Neuroblastoma ranks as the second most prevalent solid tumor in children, following brain tumors. Typically, it produces catecholamines. The breakdown products, vanillylmandelic acid and homovanillic acid, can be quantitatively analyzed in urine to diagnose the disease.Pheochromocytoma is a tumor that originates from the adrenal gland or sympathetic paraganglia, secreting epinephrine and norepinephrine. These catecholamines trigger symptoms like headaches, nausea, vomiting, sweating, pallor, and intense anxiety.Chemodectoma is a benign tumor within the chemoreceptor system, with the carotid body tumor and the glomus jugulare tumor being the most common forms. It is also referred to as nonchromaffin paraganglioma.Familial paraganglioma syndrome is a rare inherited condition characterized by slow-growing benign tumors—paragangliomas, glomus tumors, or chemodectomas—primarily in the head and neck area. The associated gene is found on chromosome 11q23. These tumors can cause disfiguring local swellings, nerve damage, or skull base involvement, potentially leading to symptoms such as hearing loss, pain, persistent cough, and weakness due to nerve compression. The disease is inherited from the paternal side, consistent with genomic imprinting, where the maternal gene is inactivated and can only be activated during certain developmental stages.Dopamine-β-hydroxylase deficiency is a severe condition resulting from the complete lack of the enzyme dopamine-β-hydroxylase. In childhood, it presents with symptoms like reduced exercise tolerance, fatigue, and episodes of low blood pressure (orthostatic hypotension), which worsen in late adolescence and early adulthood.Tetrahydrobiopterin deficiency is a genetic disorder affecting enzymes necessary for catecholamine synthesis, leading to neurotransmitter deficiencies. Symptoms manifest between two and eight months of age and may include fluctuating body temperature, difficulty swallowing, excessive saliva, constricted pupils, eyelid drooping, reduced mobility, drowsiness, and irritability.
