Adenylosuccinase deficiency
Adenylosuccinase Deficiency
Adenylosuccinase deficiency (pronunciation: a-den-ylo-suc-cin-ase de-fi-cien-cy) is a rare inherited metabolic disorder characterized by the lack of the enzyme adenylosuccinase. This deficiency leads to an accumulation of certain chemicals in the body that can affect physical and mental development.
Etymology
The term "Adenylosuccinase deficiency" is derived from the name of the enzyme that is deficient in this condition, adenylosuccinase. The word "adenylosuccinase" is a combination of "adenylo", referring to adenosine, a component of DNA, and "succinase", a type of enzyme. The term "deficiency" comes from the Latin "deficientia", meaning "lack".
Symptoms
The symptoms of Adenylosuccinase deficiency can vary widely, but they often include developmental delay, intellectual disability, and seizures. Some individuals may also have physical abnormalities, such as growth retardation and distinctive facial features.
Causes
Adenylosuccinase deficiency is caused by mutations in the ADSL gene, which provides instructions for making the enzyme adenylosuccinase. This enzyme is involved in the production of purines, which are key components of DNA, RNA, and molecules that serve as energy sources in the cell.
Diagnosis
Diagnosis of Adenylosuccinase deficiency is typically made through biochemical testing, which can detect elevated levels of certain chemicals in the body that are indicative of the condition. Genetic testing can also be used to identify mutations in the ADSL gene.
Treatment
There is currently no cure for Adenylosuccinase deficiency, and treatment is symptomatic and supportive. This may include medications to control seizures, physical therapy to improve motor skills, and special education services to address developmental delays.
See also
References
External links
- Medical encyclopedia article on Adenylosuccinase deficiency
- Wikipedia's article - Adenylosuccinase deficiency
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