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Analbuminemia (a quantitative albumin variant)
La Ricerca in Clinica E in Laboratorio
|January 1, 1979
Summary
Analbuminemia, a rare genetic disorder, presents with mild symptoms like ankle edema despite absent serum albumin. This condition challenges the assumed essential role of albumin in human physiology.
Area of Science:
- Biochemistry
- Human Genetics
- Clinical Medicine
Background:
- Serum albumin is crucial for homeostasis, involved in colloid osmotic pressure, transport, and nutrition.
- Analbuminemia is an extremely rare genetic disorder, with few cases reported since its initial description in 1954.
- The physiological significance of albumin is challenged by individuals with analbuminemia who often remain asymptomatic.