Analbuminemia in an American Indian girl.
Analbuminemia was fortuitously detected in a nonedematous 12-year-old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus. Immunologic methods revealed trace amounts (17 mg/100 ml) of apparently normal serum albumin. The patient's parents were remotely related. The pedigree and clinical findings were compatible with autosomal recessive transmission of analbuminemia. Heterozygotes had subnormal levels of serum albumin. The Gc-locus is closely linked to the structural albumin locus. Gc-protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia. Gc-types in the family were compatible with, but did not prove, linkage of analbuminemia to the Gc-locus. These findings suggest a "thalassemia"-like mutation for this disorder.
D000328:Adult; D000368:Aged; D001798:Blood Proteins / Q000378:metabolism; D002648:Child; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007198:Indians, North American; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D010375:Pedigree; D012709:Serum Albumin / Q000172:deficiency*
D001798:Blood Proteins; D012709:Serum Albumin