Rare alpha 1 antitrypsin allele PI W and a history of infant liver disease.
We present a consanguinous couple whose three of four children are homozygous for a rare slow alpha 1 antitrypsin allele PI*W. All three children had abnormal liver function in infancy and two died in infancy of liver disease. The eldest child and both parents were heterozygous for the PI*W allele and were unaffected. Therefore, although serum levels are not markedly reduced, homozygotes appear to be at increased risk of developing liver disease.
Clark
P
P
Institute of Clinical Pathology and Medical Research, Westmead Hospital, N.S.W., Australia.
Chong
A Y
AY
D000483:Alleles; D003241:Consanguinity; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008107:Liver Diseases / Q000097:blood / Q000235:genetics*; D008297:Male; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism
D000515:alpha 1-Antitrypsin