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Biomedical subjects

K Ullrich

Publications and source records attributed to K Ullrich.

At least 127 records · Page 7Linked to original sources
PubMed1988

Evoked potentials and electroencephalography in adolescents with phenylketonuria.

We studied the pattern-reversal VEP, the BAEP and the EEG with conventional and computerized analysis in 41 adolescents with hyperphenylalaninemia (24 HPA type 1, 12 HPA type 2, 4 HPA type 3, 1 DHPR deficiency) and 35 control persons. A prolongation of the P100 latency in the VEP, a greater interear difference of the I-V interwave latency in the BAEP and slowing of EEG background activity were found. Five per cent of the patients demonstrated spikes and 12.5% abnormal sharp transients in the EEG. The latency increase in the VEP corresponded to the compliance with the diet during the first decade of life. No influence of the actual Phe concentration at the time of the investigation was demonstrated. The BAEP- and EEG-findings were not related to the course of treatment. Thus the VEP changes in this cross sectional study refer to alterations of brain function that occurred during the early years of life. To investigate the value of evoked potentials and EEG in monitoring brain function after discontinuing the diet longitudinal data are needed.

Adolescent↗
PubMed1988

Glycogen storage disease type I and III and pyruvate carboxylase deficiency: results of long-term treatment with uncooked cornstarch.

Three patients with glycogen storage disease type I (GSD-I), three with glycogen storage disease type III (GSD-III) and one with pyruvate carboxylase deficiency (PCD) could be successfully switched over from continuous nocturnal gastric drip feeding (GDF) to nocturnal feeding with uncooked cornstarch in yoghurt or "quark" (CSF) at the age of 4-20 years. The new kind of therapy is much more convenient for the patients. When followed up to 30 months, patients on CSF showed the same clinical and laboratory findings as during the last two years with GDF. CSF was not introduced to three patients with GSD-I. Two of them refused the permanent starch-yoghurt meals. In the third patient the morning blood glucose concentrations were too variable.

Adolescent↗
PubMed1988

[Continuous subcutaneous insulin infusion in the treatment of insulin-dependent diabetes mellitus].

Intensified insulin delivery has attained significant importance in the treatment of insulin-dependent diabetes to avoid microangiopathy involving the retina and kidney. 15 patients have been treated for periods from 2 month to 3 years, 2 years with continuous subcutaneous insulin infusion. All patients have better metabolic control than that achieved with conventional therapy. HbA1c decreased from 7.8% +/- 1.6 (SD) to 6.2% +/- 1.3 (normal value: 3.8-6.5%). Negative features of insulin-pump therapy include hyperglycemias after discontinuation of insulin infusion and cutaneous infection at the catheter site. No severe episodes of hypoglycemia were observed. Acceptability of pump treatment is good in our patients because of improved physical condition and the ability to pursue their usual activities.

Adolescent↗
PubMed1987

Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome).

The development of radiological changes in two patients with mucopolysaccharidosis (MPS) Type I H/S is described. Radiological findings reveal enlargement of the sella in one patient, impression of the basilar skull in the other patient. Sclerosis and thickening of the base of skull was observed in both patients. The mandibular necks were short with striking flattening of the superior surfaces of the condyles, when the patients reached adult age. At the age of 12, hypertelorism and spaced teeth were already present in both patients. In addition, they showed early costal, clavicular and scapular changes, irregularities of the acromial joints and acetabulae, hypoplasia of the inferior portion of the iliac bones and flared iliac wings. The flat femurs had short metaphyses and were held in valgus position. Development of dentigerous cysts as well as mandibular changes seem to be rather specific for this variant of alpha-L-iduronidase deficiency. In contrast to the classical form of MPS I, skeletal changes of the spine and hands are minimal.

Adult↗
PubMed1986

Severe course of glycogen storage disease type II (Pompe's disease) without development of cardiomegalia.

Glycogen storage disease type II Pompe (GSD II) is a lysosomal storage disease caused by an inherited deficiency of acid alpha-glucosidase. In addition to the classical infantile form of GSD II, several clinical variants are known. We describe an infant with the classical course of the disease. Our patient differs from the classical variant by the lack of cardiomegalia and the high residual activity of acid alpha-glucosidase in cultivated skin fibroblasts and muscle tissue. In the present case, however, glycogen storing lysosomes were found in peripheral lymphocytes and skeletal muscle cells. This finding underlines the particular value of ultrastructural investigation in the diagnosis of GSD II.

Biopsy↗
PubMed1983

Normal exocytosis and endocytosis of lysosomal beta-hexosaminidase in a case of alpha 1-antitrypsin deficiency.

Secretion of lysosomal beta-hexosaminidase by cultivated skin fibroblasts and receptor-mediated endocytosis of leucocyte beta-hexosaminidase from a patient by cultivated non-parenchymal rat liver cells and skin fibroblasts were similar to that of a control proband. The results suggest normal oligosaccharide side chains of high mannose type on lysosomal enzymes in alpha 1-antitrypsin (AAT) deficiency.

Animals↗
PubMed1983

Glycogen storage disease type I. Results of treatment with frequent daytime feeding, combined with nocturnal intragastric feeding and with administration of an alpha-glucosidase inhibitor.

Seven patients with glycogen disease type I have been treated with nocturnal intragastric feeding combined with frequent daytime feeding. Follow-up shows a striking improvement in their clinical condition including growth rate. Determination of biochemical parameters reveals a significant increase in mean blood glucose levels and a significant decrease of lactate, pyruvate, alanine, uric acid, triglycerides, and SGOT in blood. Additional administration of an alpha-glucosidase inhibitor in four patients caused a significant increase in blood lactate despite unchanged blood glucose levels.

Acarbose↗
PubMed1983

[Liver cirrhosis due in alpha-1-antitrypsinin deficiency and development of an arteriovenous shunts of the lungs].

A 10.5 year old girl with liver cirrhosis due to AAT-deficiency (Pi type ZZ) developed cyanosis and clubbing of finger and toes. Clinical aspect of a cyanotic heart disease appeared with 10 years, 7 years after diagnosis of cirrhosis. By contrast echocardiography existence of intrapulmonary arterio-venous shunts was demonstrated. When determined during the first year of life, serum-alpha-1-globulin-fraction of the patient was found to be normal. The result indicates, that even in severe AAT-deficiency of Pi type ZZ direct determination of AAT is necessary for diagnosis of the disease.

Arteriovenous Fistula↗
PubMed1980

Metabolism of sulfated glycosaminoglycans in rat hepatocytes. Synthesis of heparan sulfate and distribution into cellular and extracellular pools.

Primary cultures of rat hepatocytes grown in a serum-free medium supplemented with [35S]sulfate synthesize 35S-labelled glycosaminoglycans at an almost constant rate for 58 h. Approx. 57% of the newly synthesized 35S-labelled glycosaminoglycans remain within the hepatocytes, approx. 30% become associated with the cell surface and only 13% are secreted into the medium. The amount of cell-surface-associated 35S-labelled glycosaminoglycans became constant within 36 h, whereas no equilibrium was reached in the intra- and extracellular pool. During a 24 h chase more than 50% of the intracellular and cell-surface-associated 35S-labelled glycosaminoglycans disappears, more than 80% of this material is degraded and radioactivity is recovered as inorganic sulfate. A minor part is released into the medium in a macromolecular form. Heparan sulfate accounts for more than 95% of the 35S-labelled glycosaminoglycans in each of the three pools. It is distinguished from heparan sulfates from other sources by the presence of unsubstituted glucosamine residues. In all three pools, heparan sulfate chains of mean molecular weights between 24 000 and 30 000 are part of an alkali labile proteoglycan. Intra- and extracellularly, however, part of the heparan sulfate appears to have little, if any, protein attached. Hepatocytes contain heparan sulfate-degrading endoglycosidase activity, which may contribute to the variation of molecular weights observed for the heparan sulfate.

Animals↗
PubMed1980

Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

Two male patients, aged 6 and 25, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, exessive excretion of keratan sulfate, and abnormal urinary oligosaccharides. Leukocytes and fibroblasts of both patients were deficient in acid beta-galactosidase (beta-gal) and normal in N-acetylgalactosamine-6-sulfate sulfatase, the deficient enzyme in classical Morquio syndrome. The beta-gal deficiency was not due to an endogenous inhibitor, and the parents exhibited intermediate activities. Deficient beta-gal activity was observed toward p-nitrophenyl-beta-galactoside, 4-methylumbelliferyl-beta-galactoside (4 MU-beta-gal), lactose, GM1 ganglioside, keratan sulfate, and asialofetuin (ASF). Under standard assay conditions, the residual activity was similar for all substrates tested. Toward p-nitrophenyl-beta-glactoside, the mutant enzyme behaved as a Km variant.

Adult↗
PubMed1979

Effect of lectins on the metabolism of sulfated glycosaminolycans in cultured fibroblasts.

A short exposure of human skin fibroblasts to Concanavalin A and wheat germ agglutinin led to an intra- and extracellular accumulation of sulfated glycosaminoglycans. The intracellular accumulation was caused by an impaired degradation of sulfated glycosaminoglycans. The increase of extracellular and cell surface associated 35S-labeled proteoglycans could be ascribed to a lectin-mediated inhibition of endocytosis of these polysaccharides. Results obtained with mono- and divalent Concanavalin A derivatives were in agreement with the view that lectins inhibit endocytosis of sulfated proteoglycans by binding to the cell surface receptors specific for these polysaccharides. Proteoglycans secreted by fibroblasts formed precipitable complexes with Concanavalin A. Complex formation reduced markedly the uptake of the proteoglycan. All effects on glycosaminoglycan metabolism mediated by Concanavalin A and wheat germ agglutinin could be prevented by methyl alpha-D-mannoside and N-acetylglucoseamine, respectively.

Cells, Cultured↗
PubMed1979

Endocytosis of lysosomal enzymes by non-parenchymal rat liver cells. Comparative study of lysosomal-enzyme uptake by hepatocytes and non-parenchymal liver cells.

Cultured non-parenchymal rat liver cells internalize human urine alpha-N-acetylglucosaminidase, human skin beta-N-acetylglucosaminidase and pig kidney alpha-mannosidase. Different heat-stabilities of endocytosed and endogenous alpha-mannosidase activity provided indirect evidence that the increase in intracellular activity resulted from uptake. The high efficiency and the saturation kinetics of uptake indicated that these enzymes become internalized by adsorptive endocytosis. Competition experiments with glycoproteins bearing known carbohydrates at their non-reducing terminals, with mannans, methyl glycosides and monosaccharides, established that the uptake of these three lysosomal enzymes is mediated by the binding to cell-surface receptors that recognize mannose and N-acetylglucosamine residues. The decreased uptake after treatment of these enzymes with either beta-N-acetylglucosaminidase or alpha-mannosidase was in accordance with the results of the inhibition experiments. Removal of oligosaccharides of the high-mannose type by treatment with endoglucosaminidase H inhibited uptake almost completely, suggesting that the sugars recognized by cell-surface receptors of non-parenchymal liver cells are located in the outer core of these oligosaccharides. A comparison of the uptake of these three lysosomal enzymes by parenchymal and non-parenchymal rat liver cells indicates that infused alpha-N-acetylglucosaminidase is taken up preferentially by hepatocytes, whereas alpha-mannosidase and beta-N-acetylglucosaminidase are localized predominantly in non-parenchymal rat liver cells.

Acetylglucosaminidase↗