Histidinemia
Histidinemia
Histidinemia (pronounced his-ti-di-nee-mia) is a rare metabolic disorder characterized by elevated levels of the amino acid histidine in the blood. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the condition.
Etymology
The term "Histidinemia" is derived from the name of the amino acid "histidine" and the Greek word "haima" meaning blood. It refers to the presence of an abnormally high level of histidine in the blood.
Symptoms
Symptoms of Histidinemia can vary widely among affected individuals. They may include developmental delay, speech and language problems, and learning difficulties. Some individuals may also have ataxia, a condition characterized by a lack of muscle control or coordination of voluntary movements.
Diagnosis
Diagnosis of Histidinemia is typically made through a blood test that measures the level of histidine in the blood. Genetic testing may also be used to confirm the diagnosis and identify carriers of the disorder.
Treatment
Treatment for Histidinemia primarily involves a low-histidine diet to help reduce the level of histidine in the blood. In some cases, medication may also be prescribed to help manage symptoms.
Related Terms
External links
- Medical encyclopedia article on Histidinemia
- Wikipedia's article - Histidinemia
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski