Activation of Human Pancreatic Proteolytic Enzymes: The Role of Enteropeptidase and Trypsin.

Unlabelled: The role of enteropeptidase and trypsin in the process by which pancreatic proteolytic zymogens are converted into active enzymes has been investigated in the past, using purified enzymes and proenzymes of animal origin. In the present study, we wanted to study this process under conditions which come near to the physiological situation, which prevails in the human duodenum and upper small intestine.

Patients And Methods: Duodenal contents were collected from 2 patients with intestinal enteropeptidase deficiency.

Bicarbonate in cystic fibrosis.

Background: Cystic fibrosis (CF, mucoviscidosis) is caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), which is a chloride and bicarbonate channel necessary for fluid secretion and extracellular alkalization. For a long time, research concentrated on abnormal Cl and Na transport, but neglected bicarbonate as a crucial factor in CF.

Methods: The present short review reports early findings as well as recent insights into the role of CFTR for bicarbonate transport and its defects in CF.

Alpha-1-antitrypsin deficiency in children: liver disease is not reflected by low serum levels of alpha-1-antitrypsin - a study on 48 pediatric patients.

Background: Alpha-1-antitrypsin (alpha1-AT) is an important protease inhibitor. The phenotypes are characterized by a low total serum alpha1-AT or by an abnormal protein accumulating in the hepatocytes. The aim of our study was to examine a correlation of total serum alpha1-AT, phenotype, and liver involvement in pediatric patients.

Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.

The incidence of severe metabolic crises in medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients homozygous for the common c.985A>G mutation, who had been identified by neonatal screening, was assessed prospectively and compared to retrospective cohort data in unscreened patients with identical genotypes. Logrank test showed a significant reduction of severe metabolic crises in the screened cohort (p<0.

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Enteropeptidase (enterokinase [E.C.3.