Clinical Chemistry, January 1st, 2005
Analbuminemia (MIM 103600) is a rare, inherited condition characterized by mild symptoms, including low blood pressure, slight edema, and fatigue (1). In the majority of cases, the disorder is detected by electrophoretic screening of plasma proteins, which shows either the complete absence of or the presence of very low amounts of circulating albumin (1) ranging from 0.01 to 1000 mg/L (2, 3). The disorder is transmitted in an autosomal recessive pattern, and to date, seven different causative mutations have been characterized by DNA sequencing within the albumin gene (4). These include three n...
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