'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ.
A patient with neonatal jaundice and cirrhosis who was previously reported homozygous for the Durate variant of galactose-1-phosphate uridyl transferase has the ZZ genotype for alpha1-antitrypsin. A sister of the patient, also with ZZ genotype, is less severly affected with liver disease and is a heterozygote for the Durate variant. Since a number of patients with ZZ genotype of alpha1-antitrypsin have been previously reported to have liver disease, the latter genotype is the more probable explanation for the patients' clinical state. A question is raised, however, whether the Duarte variant may be specifically associated with the development of liver disease in ZZ individuals.
D002648:Child; D002675:Child, Preschool; D004586:Electrophoresis; D005260:Female; D005500:Follow-Up Studies; D005796:Genes; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000235:genetics*; D008103:Liver Cirrhosis / Q000235:genetics*; D008297:Male; D009713:Nucleotidyltransferases / Q000097:blood*; D010375:Pedigree; D010641:Phenotype; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood*; D000515:alpha 1-Antitrypsin / Q000096:biosynthesis*
D000515:alpha 1-Antitrypsin; D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase