[Biochemical study on the 1st case of analbuminemia in France].
A new case of analbuminemia was described as follows for a six month's old child of Algerian origin. The discovery of the disease was made by chance, the clinical signs were limited to small oedema. The serum albumin concentration was 64 mg/1 and its immunochemical action was identical to that of normal albumin. The system reacted by an increase of the synthesis of globulins. For the subject, the alpha1-antitrypsin, ceruleoplasmin, hatoglobin, alpha2-macroglobulin, transferrin, immunoglobulins M contents were three times higher than the standard figures. The analysis of the distribution of non esterified fatty acids ususally carried by albumin was normal. On the other hand, it was possible to show that the presence of free bilirubin independant from proteins could be detected for a concentration of 17 micronmol/l. A study of the family showed a standard repartition of albumin and globulins. The genetic origin observed in the symptoms was confirmed by the consanguinity of the parents.
D000462:Algeria; D001663:Bilirubin / Q000097:blood; D001796:Blood Protein Disorders / Q000235:genetics; D001797:Blood Protein Electrophoresis; D003241:Consanguinity; D004487:Edema / Q000209:etiology; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005602:France; D006801:Humans; D007122:Immunoelectrophoresis; D007223:Infant; D008055:Lipids / Q000097:blood; D008297:Male; D009997:Osmotic Pressure; D011485:Protein Binding; D012709:Serum Albumin / Q000172:deficiency*; D012712:Serum Globulins / Q000096:biosynthesis
D005230:Fatty Acids, Nonesterified; D008055:Lipids; D012709:Serum Albumin; D012712:Serum Globulins; D001663:Bilirubin
Etude biochimique du premier cas d'analbuminémie en France