Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidase.

We report on a 40-yr-old man with both primary enteropeptidase deficiency and celiac disease. He suffered from severe intestinal malabsorption and growth failure as a child. Enteropeptidase deficiency was found and pancreatic enzyme replacement therapy resulted in a growth spurt.

Plasma lipids and lipoproteins of a patient with cholesteryl ester storage disease.

The plasma lipids, lipoproteins and lipolytic enzymes of a patient suffering from cholesterol ester storage disease were investigated and followed over a time period of 3 years. The patient was hypertriglyceridaemic and cholesterolaemic and exhibited very low levels of high density lipoproteins. These lipoproteins consisted almost exclusively of the HDL-subfraction-3.

A semi-elemental diet with low osmolarity and high content of hydrolyzed lactalbumin in the treatment of acute diarrhea in malnourished children.

Thirty-eight moderately to severely malnourished children with severe acute or subacute diarrhea were treated according to two different feeding schemes, divided at random half of the children received semi-elemental diet (SED) with an osmolarity of 302 milliosmol per liter, a low lactose content and a relatively high content of lactalbumine hydrolysate (1 g/100 ml). The other half of the patients received available proprietory formulas or diluted cow's milk with added carbohydrates. The results obtained showed that the children who were fed the SED had a better average weight gain during the first three weeks of hospitalization compared to the control group.

Distribution of human adult lactase phenotypes in the population of Austria.

A total of 528 unrelated, apparently healthy, adult and adolescent Austrians (270 females, 258 males, mean age 22.1 years) were examined for lactose absorption capacity employing a noninvasive field test based on breath hydrogen (H2) determination. Subjects exhibiting a change of breath hydrogen concentration of less than 15 volumes per million (vpm) after a load of 50 g lactose (n = 422) were classified as lactose absorbers, 106 probands (20.

Enhanced adenosine 3':5' - monophosphate response to beta-adrenergic stimulation in cystic fibrosis fibroblasts after removal of conditioned medium.

Skin fibroblasts derived from 6 patients with cystic fibrosis (CF), 1-6 months old, and from 6 age matched donors were investigated for their ability to accumulate cyclic adenosine 3':5'-monophosphate (c-AMP) in response to isoproterenol and prostaglandin E1 (PGE1) using strictly defined culture conditions. In order to obtain, as far as possible, constant protein content and cell number, cultures were synchronized in the early G1 phase of the cell cycle by growing them in serum free medium before adding stimulating drugs. There were no statistically significant differences both in basal c-AMP or after incubation with theophylline alone.

The application of a new synthetic substrate to the determination of enteropeptidase in rat small intestine and human intestinal biopsies.

The application of a new synthetic substrate to the direct determination of enteropeptidase is described. The substrate Gly-(L-Asp)4-L-Lys-2-naphthylamide contains the amino acid sequence of the activation peptides of trypsinogen linked via an amide bond to the fluorophore 2-naphthylamine. The sequence of amino acids is responsible for the specificity and substrate recognition of the enteropeptidase-catalyzed activation of trypsinogen.

Turnover studies of human intestinal brush border membrane glycoproteins in organ culture.

Turnover in organ culture of human small intestinal membrane glycoproteins was measured by the pulse-chase technique, using 14C-glucosamine, 14C-fucose or 14C-leucine as tracers. Apparently, low degradation rates were found for the major high-molecular-weight proteins which co-migrated on SDS-polyacrylamide gels with maltase-glucoamylase, lactase-phlorizin-hydrolase and sucrase-isomaltase enzymic activities. In contrast, an unidentified glycoprotein appearing on gels next to alkaline phosphatase exhibited a higher degradation rate with an apparent half-life of about 30 h, this being similar to the half-life of total glycoprotein as measured in mucosal homogenates.

Re-evaluation of the techique of organ culture for studying gluten toxicity in coeliac disease.

In vitro cytotoxicity of four different gluten fractions was tested in organ culture for up to 48 hours using flat intestinal biopsies from children with coeliac disease. The fractions were (1) a peptic-tryptic digest of gliadin containing a moderate amount of alpha-gliadin, (2) a peptic-tryptic digest of gluten (Frazer fraction III) froma strain of wheat with a high content of alpha-gliadin, (3) alpha-gliadin, and (4) alpha-GT-18,000, a tryptic fragment of alpha-gliadin. The latter three fractions were toxic to coeliac patients in vivo.

One-hour blood-xylose in cystic fibrosis.

One-hour blood-xylose concentrations after an oral xylose load were measured in children with cystic fibrosis (CF) and healthy controls. The mean of the 1-hour blood-xylose values was significantly increased in the group with CF. The finding confirms an earlier observation by Rolles et al.

Protein-losing enteropathy due to segmental erosive and ulcerative intestinal disease cured by limited resection of the bowel.

Two children suffering from extensive intestinal protein loss due to subacute and chronic segmental small bowel disease are presented. In the first case a tentative diagnosis of chronic erosive and ulcerative non-granulomatous jejunitis as described in adults was made. The second child suffered from subacute erosive and ulcerative segmental transmural ileitis following mechanical ileus.

A micromethod for separation and identification of digestive enzymes in brush border membrane fragments of single human intestinal biopsies.

A micromethod for the isolation of brush border membrane fragments from single peroral duodenal biopsies, and their subsequent analysis by polyacrylamide gel electrophoresis is described. The quantity of biopsy material used varied between 5 and 15 mg wet weight, leaving enough mucosa for histological examination. By cutting the gels longitudinally into two halves it was possible to identify several maltases, sucrase, isomaltase and lactase and to correlate these enzymatic activities with distinct co-migrating protein peaks.

Value of 1-hour blood-xylose test in diagnosis of childhood coeliac disease.

In a series of 46 children with untreated coeliac disease and in 102 controls with normal mucosa the 1-hour blood-xylose test was, in view of its simplicity, of much value in the diagnosis of childhood coeliac disease. Only one blood-xylose result was falsely normal in the 46 coeliac patients. It is concluded that a normal blood-xylose value does not exclude coeliac disease and should not prevent peroral biopsy in the presence of strong clinical suspicion.

Relative underweight in cystic fibrosis and its prognostic value.

On the basis of observations in 117 children with cystic fibrosis, seen from January 1956 to June 1976, it is demonstrated that the relative underweight (weight loss corrected for height) is most pronounced in children with predominantly pulmonary sypmtoms. The degree of underweight closely correlates inversely with survival. Because of its prognostic value, it is recommended that this clinical parameter be included in the checkups which are periodically carried out on children suffering from cystic fibrosis.

The brush border membrane in hereditary sucrase-isomaltase deficiency: abnormal protein pattern and presence of immunoreactive enzyme.

In a child with hereditary sucrase-isomaltase deficiency immunoreactive enzyme was present in the intact duodenal mucosa. Polyacrylamide gel electrophoresis carried out with membrane fragments of an intestinal biopsy showed an abnormal protein band without enzyme activity. The mucosa had a relatively high residual isomaltase activity which was recovered from the gel in a position suggesting higher than normal molecular weight.

Classification at time of diagnosis and subsequent survival in children with cystic fibrosis.

The survival rates in 204 patients suffering from cystic fibrosis observed between January 1956 and June 1976 were recorded. The patients were divided into five groups according to the symptoms present at the time of diagnosis and survival rates were recorded separately for each group. Survival was less good in the group of patients presenting initially with pulmonary symptoms compared to the group presenting with gastrointestinal symptoms.

Biosynthesis of brush border glycoproteins by human small intestinal mucosa in organ culture.

The incorporation of [14C]glucosamine into brush border glycoproteins by human small intestinal mucosa in organ culture has been investigated. The experiments were based on the observations that (1) isolated brush border membrane fragments from cultured explants showed an unchanged pattern of protein bands and brush border enzyme activities on sodium dodecyl sulfate/polyacrylamide gels after electrophoresis and (2) the rate of overall [14C]glucosamine incorporation measured in the tissue homogenate remained constant up to 48 h. After 24 h of culture, the radioactivity peaks on gels due to incorporation of [14C]glucosamine were found exclusively in the high molecular weight region and corresponded to protein bands identified as maltase-glucoamylase, lactase, sucrase-isomaltase, enterokinase and alkaline phosphatase.

Glycosidases of the guinea pig brush border membrane.

The separation by polyacrylamide gel electrophoresis and subsequent enzymatic analysis of the components of the guinea pig intestinal brush border membrane revealed the presence of three enzyme complexes: maltase-glucoamylase, maltase-sucrase-glucoamylase and maltase-sucrase. Additional bands possessing lactase, trehalase and alkaline phosphatase activity were identified but no phlorizin hydrolase or palatinase was detectable. After exposure to strong dissociating conditions the bands possessing enzymatic activity were either absent or greatly reduced in intensity.