title: Hereditary disorders of albumin synthesis.
abstract: Albumin, the major serum protein, is considered to be responsible for maintenance of normal serum colloid osmotic pressure, transport of certain hormones and maintaining an endogenous source of amino acids. The acute loss of albumin in the nephrotic syndrome leads to severe generalized peripheral edema and difficulties in maintenance of normal blood pressure as well as hypocalcemia. Yet, there are now 14 reported cases of congenital analbuminemia in which serum albumin is absent or greatly reduced without clinical evidence of edema, decreased hormone levels or abnormal amino acid requirements. These "experiments of nature" are reviewed in detail comparing clinical and laboratory findings in these patients with the postulated effects of a low serum albumin level.
mesh_terms: D001769:Blood; D006801:Humans; D008055:Lipids / Q000097:blood; D009997:Osmotic Pressure; D012709:Serum Albumin / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics
chemical_list: D008055:Lipids; D012709:Serum Albumin