Demonstration of sialyltransferase deficiency in the serum of a patient with α 1 antitrypsin deficiency and hepatic cirrhosis

M. S. Kuhlenschmidt, E. J. Yunis, R. M. Iammarino, S. J. Turco, S. P. Peters, R. H. Glew

Research output: Contribution to journalArticlepeer-review


The basis for the accumulation of material which displays the immunoreactivity of α antitrypsin (α 1 AT) within the endoplasmic reticulum of liver parenchymal cells of patients with hepatic cirrhosis and α 1 AT deficiency is unkwown. A study was made of a patient with homozygous (P(i)ZZ) α 1 AT deficiency and advanced cirrhosis whose serum contained elevated levels of liver enzymes, a relatively high concentration of uridine diphosphate galactose:glycoprotein galactosyltransferase, and normal levels of a number of hydrolases of lysosomal origin. On biopsy, this patient's liver was shown to contain periodic acid Schiff base positive material (reactive cytoplasmic deposits which did not stain for sialic acid). Most significantly, serum from the same patient was markedly deficient in cytidine 5 monophosphate N acetylneuraminic acid:asialoglycoprotein sialic acid transferase when assayed using a variety of acceptors, including the asialo derivatives of α 1 AT, fetuin, and ceruloplasmin. Serum from both parents who are heterozygous for α 1 AT deficiency and free of detectable liver disease, contained less than 50% as much cytidine 5' monophosphate N acetylneuraminic acid:asialo α 1 AT sialic acid transferase as the control, adult serum. These observations are consistent with the hypothesis that this patient with α 1 AT deficiency and hepatic cirrhosis possesses a defect in the secretion mechanism responsible for the transport of α 1 AT that lies at the level of a sialyltransferase. (21 references.)

Original languageEnglish (US)
Pages (from-to)413-419
Number of pages7
JournalLaboratory Investigation
Issue number4
StatePublished - 1974
Externally publishedYes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology


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