Analbuminaemia
Analbuminaemia
Analbuminaemia (pronounced as an-al-bu-min-ee-mia) is a rare, inherited disorder characterized by the absence or near absence of serum albumin in the blood.
Etymology
The term "Analbuminaemia" is derived from the Greek words "an" meaning without, "albumin" which is a type of protein, and "aemia" meaning condition of the blood.
Definition
Analbuminaemia is a rare autosomal recessive disorder that is characterized by the absence or near absence of serum albumin, the main protein in blood plasma. This condition is caused by mutations in the ALB gene, which provides instructions for making albumin.
Symptoms
Symptoms of Analbuminaemia may include edema, fatigue, and an increased risk of infection. The severity of the symptoms can vary greatly among individuals with the condition.
Diagnosis
Diagnosis of Analbuminaemia is typically made through blood tests that measure the level of albumin in the blood. Genetic testing can also be used to identify mutations in the ALB gene.
Treatment
Treatment for Analbuminaemia is primarily supportive and may include dietary modifications and medications to manage symptoms. In some cases, albumin replacement therapy may be recommended.
Related Terms
- Albumin: A protein that is produced by the liver and is the main protein in blood plasma.
- Edema: A condition characterized by an excess of watery fluid collecting in the cavities or tissues of the body.
- Autosomal recessive: A type of inheritance pattern in which two copies of an abnormal gene must be present in order for the disease or trait to develop.
- ALB gene: The gene that provides instructions for making albumin.
External links
- Medical encyclopedia article on Analbuminaemia
- Wikipedia's article - Analbuminaemia
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