'Durate variant with clinical signs' has alpha1 -antitrypsin genotype ZZ. Issue 1 (February 1976)

• Record Type: Journal Article
• Authors: Weitkamp, L R; Sayre, J W; Schwartz, R H; Doherty, R; Khera, S A
• Is Part Of: Journal of medical genetics. Volume 13:Issue 1(1976)
• Page Start: 46
• Page End: 48
• Publication Date: 1976-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.13.1.46
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.