Hypertryptophanemia
Hypertryptophanemia[edit | edit source]
Hypertryptophanemia is a rare metabolic disorder characterized by elevated levels of tryptophan in the blood. This condition is often associated with defects in the metabolic pathways that process tryptophan, leading to an accumulation of this essential amino acid.
Pathophysiology[edit | edit source]
Tryptophan is an essential amino acid that serves as a precursor for several important biomolecules, including serotonin, melatonin, and niacin. In normal metabolism, tryptophan is converted into kynurenine through the action of the enzyme tryptophan 2,3-dioxygenase. Kynurenine is further metabolized into several other compounds, including kynurenic acid and quinolinic acid.
In hypertryptophanemia, there is a disruption in this metabolic pathway, often due to genetic mutations affecting the enzymes involved. This disruption leads to an accumulation of tryptophan in the bloodstream, which can have various physiological effects.
Clinical Presentation[edit | edit source]
Patients with hypertryptophanemia may present with a range of symptoms, depending on the severity of the condition and the specific metabolic pathways affected. Common symptoms include:
- Neurological disturbances, such as mood changes and cognitive impairment, due to altered serotonin levels.
- Gastrointestinal issues, as tryptophan is also involved in gut function.
- Skin changes, potentially related to niacin deficiency.
Diagnosis[edit | edit source]
The diagnosis of hypertryptophanemia is typically made through blood tests that measure the levels of tryptophan and its metabolites. Genetic testing may also be conducted to identify specific mutations in the enzymes responsible for tryptophan metabolism.
Treatment[edit | edit source]
Treatment for hypertryptophanemia focuses on managing symptoms and addressing the underlying metabolic defect. This may include dietary modifications to reduce tryptophan intake, supplementation with niacin, and the use of medications to manage neurological symptoms.
Related Pages[edit | edit source]
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
