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2.1
Disorder of Catecholamine Synthesis

Presentation

Tyrosine hydroxylase, present in the cytoplasm, is the rate- limiting enzyme. Stimulation of adrenergic nerves increases tyrosine hydroxylase activity. [pharmacorama.com]

Hyperphenylalaninemia is absent in sepiapterin reductase deficiency, as other reductases are present in the liver that can substitute for this enzyme. [jn.nutrition.org]

Orthostatic hypotension can be present as well, particularly in epinephrine-secreting tumors 3-5. [hormones.gr]

Depending on the amounts and the type of catecholamines synthesized, catecholamines contribute to the clinical presentation of carcinoid tumors. [clinchem.aaccjnls.org]

The catecholamine norepinephrine is a neuromodulator of the peripheral sympathetic nervous system but is also present in the blood (mostly through "spillover" from the synapses of the sympathetic system). [en.wikipedia.org]

Entire Body System

  • Fatigue

    During childhood impaired exercise tolerance, fatigue, and episodes of syncope ( fainting ) are common. Symptoms from orthostatic hypotension become worse in late adolescence and in early adulthood. [medicinenet.com]

    Disease of Deficiency A deficiency of cortisol, caused by damage to or disease of the adrenal glands can lead to Addison's disease, characterized by muscle weakness, fatigue, low blood pressure, low blood sugar, irritability, and depression, among other [sciencing.com]

    In a recent study, dopamine depletion was found to cause lessened fluency of speech, mental fatigue, confusion, loss of control over ideas, and poor concentration [i]. [sites.google.com]

    Deficiency of Vitamin B-12 results in pernicious anemia and fatigue. Vitamin B-12 is stored in the liver and affects the neurological systems. [integrativepsychiatry.net]

    Here are some common symptoms: Confusion and/or disorganized thinking; Disassociation from pleasurable events; Inability to direct attention and focus; Physical and/or mental fatigue; Changes in body weight; Low libido (sex drive); Cognitive impairment [nootriment.com]

  • Pallor

    These catecholamines cause attacks of hypertension, headache, nausea and vomiting, sweating, pallor and severe apprehension. [medicinenet.com]

    This results in episodic or sustained hypertension and in intermittent attacks of palpitations, cardiac arrhythmias, headache, sweating, pallor, anxiety, tremor, and nausea. [mayomedicallaboratories.com]

    Symptoms include hypertension, sweating, nausea and vomiting, headache, pallor, and severe apprehension (MN 2007). Chemodectoma. [newworldencyclopedia.org]

  • Underweight

    甲状腺中毒性ミオパチ(シ)ー thyrotropin binding inhibitorimmunoglobulin (TBII)甲状腺刺激抗体 thyroxine-binding globulin(TBG)サイロキシン結合グロブリン tolerance test負荷試験 transcription factor転写因子 transsphenoidal経蝶形骨の TSH receptor antibody (TRAb)TSH受容体抗体 type 1 diabetes mellitus1型糖尿病 u underweight [tokyo-med.ac.jp]

  • Fever

    […] abdominal, chest, back, or bone pain abdominal mass or bloating swelling in the legs wheezing high blood pressure rapid heartbeat diarrhea bulging eyeballs and other changes to the shape or size of your eyes, including the pupils dark areas around your eyes fever [healthline.com]

Cardiovascular

  • Hypotension

    Symptoms from orthostatic hypotension become worse in late adolescence and in early adulthood. [medicinenet.com]

    […] hydroxylase L-tyrosine to L-DOPA L-DOPA responsive dystonia L-aromatic amino acid decarboxylase L-DOPA to dopamine; 5OH- tryptophan to serotonin Neonatal seizures; Hypotonia; Infantile death Dopamine ß-hydroxylase Dopamine to Norepinephrine Orthostatic Hypotension [neuromuscular.wustl.edu]

    One of the most debilitating nonmotor symptoms is orthostatic hypotension (OH). [movementdisorders.org]

    Reference work entry DOI: https://doi.org/ 10.1007/978-3-540-29676-8_297 Synonyms Relevant conditions : Pure autonomic failure; PAF; Idiopathic orthostatic hypotension or Bradbury-Eggleston syndrome; Multiple system atrophy; MSA or Shy-Drager syndrome [link.springer.com]

    Orthostatic hypotension can be present as well, particularly in epinephrine-secreting tumors 3-5. [hormones.gr]

Psychiatrical

  • Fear

    Many times people with panic attacks will also have agoraphobia, which is the fear of going into public or open places, or other fears. In medicine, for years these have been very hard things to treat effectively. [drkaslow.com]

    Neurotransmitters and Illness Emotions are Hard-Wired in the Brain: Introduction to Ancestral Brain Systems The SEEKING-VIGILANCE Construct The Brain's SEEKING System Attention, Learning, and Memory: The VIGILANCE System Rage: an Innate Brain System Fear [mybrainnotes.com]

Neurologic

  • Apathy

    For example, depression and apathy are associated with low levels of catecholamine neurotransmitters, in some current theories. [robertbarrington.net]

    This effect may lower blood pressure and cause central nervous system effects such as depression, anxiety, apathy, and parkinsonism. [namrata.co]

  • Motor Disturbances

    Without treatment all affected individuals will eventually depend on a wheelchair due to progressive motor disturbances. [rarediseases.org]

  • Lethargy

    Affected children may also experience episodes of profuse sweating, malaise, lethargy, irritability and excessive drooling. Infants usually do not show improvement of encephalopathy or motor abilities despite treatment with levodopa. [rarediseases.org]

Workup

Elimination of false-positive elevations due to medication and use of supplementary tests, such as plasma metanephrines responses to clonidine, can help distinguish true from false-positive results 18 and reduce costs of the diagnostic workup. [hormones.gr]

Treatment

The book begins with a review of basic neuroscience and methods for studying neurobiology in human patients then proceeds to discussions of all major psychiatric syndromes with respect to knowledge of their etiology, pathophysiology, and treatment. [books.google.com]

A conclusion was drawn that the MT treatment applied exerted a long-term effect, predominantly, on the regulation of tonic corticosterone secretion. [ncbi.nlm.nih.gov]

Treatment with VPA decreased catecholamine synthesis, in a dose-dependent manner, with maximum inhibition 60 min following treatment. [karger.com]

Prognosis

Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004 ; 62 : 1058 – 65. 22. Levodopa-responsive aromatic L-amino acid decarboxylase deficiency. Ann Neurol. 2004 ; 55 : 435 – 8. 23. [jn.nutrition.org]

Etiology

The book begins with a review of basic neuroscience and methods for studying neurobiology in human patients then proceeds to discussions of all major psychiatric syndromes with respect to knowledge of their etiology, pathophysiology, and treatment. [books.google.com]

Defects in dopamine metabolism have long been implicated in the etiology of ADHD. The impulse and behavior problems found in Attention-Deficit Hyperactivity Disorder (ADHD) appear related to low levels of Dopamine in the brain. [omicsonline.org]

Chronic tendinopathy tissue pathology, pain mechanisms, and etiology with a special focus on inflammation. Scandinavian Journal of Medicine & Science in Sports, vol. 18, no 1, p. 3-15. Friedman, S.B., Chodoff, P., Mason, J.W., Hamburg, D.A. (1963). [journals.openedition.org]

Epidemiology

The research tools that are transforming other branches of medicine - epidemiology, genetics, molecular biology, imaging, and medicinal chemistry - are also transforming psychiatry. [books.google.com]

This respected cardiology reference covers everything you need to know - from epidemiology and pathophysiology through diagnosis, risk stratification, treatment, outcome studies, concomitant diseases, special populations and special situations, and future [books.google.de]

Epidemiology of alexithymia among adolescents. Journal of Psychosomatic Research, vol. 63, no 4, p. 373-376. Kano, M., Hamaguchi, T., Itoh, M., Yanai, K., Fukudo, S. (2007). [journals.openedition.org]

Pathophysiology

This respected cardiology reference covers everything you need to know - from epidemiology and pathophysiology through diagnosis, risk stratification, treatment, outcome studies, concomitant diseases, special populations and special situations, and future [books.google.de]

The book begins with a review of basic neuroscience and methods for studying neurobiology in human patients then proceeds to discussions of all major psychiatric syndromes with respect to knowledge of their etiology, pathophysiology, and treatment. [books.google.com]

Goldstein DS, Lenders JW, Kaler SG, Eisenhofer G (1996) Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders. J Neurochem 67:1781–1790 PubMed Google Scholar 5. [link.springer.com]

Clinical features, investigation, pathophysiology, and treatment. J Neurol Sci 1996;137:79-88 6. Lenders JW, Pacak K, Walther MM, et al: Biochemical diagnosis of pheochromocytoma: which test is best? JAMA 2002;287:1427-1434 [mayomedicallaboratories.com]

Prevention

Learn new methods of aggressive patient management and disease prevention to help ensure minimal risk of further cardiovascular problems. Benefit from the authors’ Clinical Pearls to reduce complications of hypertension. [books.google.de]

The field stands poised to make dramatic advances in defining disease pathogenesis, developing diagnostic methods capable of identifying specific and valid disease entities, discovering novel and more effective treatments, and ultimately preventing psychiatric [books.google.com]

It works to prevent neurotransmitter over stimulation, keeping the excitatory system in balance. [integrativepsychiatry.net]

[…] the two unwound DNA strands from reannealing DNA topoisomerases (Gyrase) relieve strain on the segment (before the helicase) DNA topoisomerase I cut one strand of DNA = prevent strain & supercoils DNA toposiomerase II cut both strands to allow second [memorize.com]

Selegiline has been added in addition to Sinemet to prevent breakdown of any neurotransmitters formed. Adjunct therapies have included trihexyphenidyl, amantidine, laxatives, and antireflux agents. [jn.nutrition.org]

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2.1
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