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Biomedical subjects

J Schaub

Publications and source records attributed to J Schaub.

At least 109 records · Page 6Linked to original sources
PubMed1979

[Hereditary storage diseases of the liver (author's transl)].

Storage diseases of the liver are reviewed, classified according to the clinical symptoms. Glycogen storage diseases go along with enlargement of the liver, - the size of the spleen being normal in the beginning; presenting symptoms in many cases are metabolic disturbances as for instance hypoglycemia. Acute symptoms due to derangement of liver function occur in galactosemia and in hereditary fructose intolerance when uptake of the hexoses is not tolerated. Splenomegaly and hepatomegaly are typical in certain lipid storage diseases; these diseases may as well exhibit hematologic symptoms. Bone dysplasias are discussed finally, which use to go along with enlargement of the liver due to storage of compounds not metabolized.

Bone Diseases, Developmental↗
PubMed1978

Separation of acid and neutral alpha-glucosidase isoenzymes from fetal and adult tissues, cultivated fibroblasts and amniotic fluid cells by DEAE-cellulose and sephadex G-100 column chromatography.

Isoenzymes of alpha-glucosidases (EC 3.2.1.20) from various human organs and body fluids from fetuses and adults were separated by DEAE-cellulose column chromatography and gel filtration using Sephadex G-100. A minicolumn (0.35 X 2.5 cm) was used for the DEAE-cellulose column chromatography of extracts from tissues as well as cultivated cells of skin fibroblasts and amniotic fluid. The enzyme activity in the eluates was measured by the use of a methylumbelliferyl derivative as substrate and a very sensitive Microscope fluorimeter. In most tissue samples alpha-glucosidase was eluted mainly as a single peak when monitored at acid pH and as two peaks when the activity was measured at neutral pH in both columns. Another small peak representing alpha-glucosidase was found in fresh extracts of cultured cells on DEAE-cellulose columns. Neutral alpha-glucosidase especially in fibroblasts was extremely sensitive to storage at -20 degrees C. DEAE-cellulose column chromatography of plasma and amniotic fluid showed similar elution patterns of alpha-glucosidase. Differences were noticed in the elution pattern of urine from infants and adults. The tissue distribution and the different characteristics of the enzyme in samples of various origins and ages were discussed.

Adult↗
PubMed1978

Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.

A patient with atypical phenylketonuria (defective BH2 synthesis), detected at age 6 months because of severe muscle hypotonia and serum phenylalanine of 20 mg/100 ml, had normal activities of phenylalanine-4-hydroxylase and DHPR in liver biopsy, but only 2% activity in the phenylalanine-4-hyroxylase in vivo test using deuterated phenylalanine. After IV administration of 2.5 mg/kg chemically pure tetrahydrobiopterin bishydrochloride (BH4 . 2HCl), serum phenylalanine decreased from 20.4 to 2.1 mg/100 ml within 3 hours. Administration of 25 mg BH4 . HCl and 100 mg ascorbic acid through a gastric tube decrease; serum phenylalanine from 13.7 to less than 1.6 mg/100 ml within 3 hours and it remained less than 2 mg/100 ml for 2 days.

Biopterins↗
PubMed1978

In vivo studies of the phenylalanine-4-hydroxylase system in hyperphenylalaninemics and phenylketonurics.

An in vivo determination of the phenylalanine-4-hydroxylase (E. C. 1.14.16.1) activity is described. Subjects were loaded wit deuterated L-phenylalanine-d5 (200 mg/kg), and the deuterated tyrosine and deuterated phenylalanine in plasma was analyzed using mass fragmentography. Six phenylketonurics (PKU), four hyperphenylalaninemics and two healthy controls were investigated. This method allowed a specific differentiation between PKU's, hyperphenylalaninemics and health controls. The remaining enzyme activity in hyperphenylalaninemics and in PKU patients can be estimated with relatively high accuracy. The hyperphenylalaninemic patients showed 7--17% of the phenylalanine-4-hydroxylase activity found in the two control persons. The PKU patients under diet showed approximately 2--3% of the activity found in the control group. In the PKU patients, loaded while showing high phenylalanine blood concentrations, no remaining activity could be measured. The logarithm of phenylalanine-d5 over tyrosine-d4 in plasma 1 h after loading gives the best differentiation. One single plasma sample of approximately 0.5 ml is sufficient.

Adult↗
PubMed1977

Cataract in a fetus at risk for oculo-cerebro-renal syndrome (Lowe).

A high-risk pregnancy for X-linked recessive inherited Lowe's syndrome was terminated due to a male karyotype in the cultured amniotic fluid cells. The eyes of the male fetus showed specific cataracteous changes of the lens. A posterior lenticonus was due to a defect of the lens capsule. The lenses were of normal size. Loss of lens material through a lens capsule defect could account for the small discoid lens usually seen in Lowe's syndrome. Amino acids in amniotic fluid had normal concentrations except lysine and proline which were markedly elevated.

Amino Acids↗
PubMed1977

The treatment of intractable diarrhea by the method of "Baustein" principle using a casein hydrolisate.

Ten infants with intractable diarrhea, celiac disease and small bowel resection were treated with a special dietetic regimen called "Baustein" principle. The three major food constituents were added to the formula stepwise: first glucose and maltodextrin followed by protein and vegetable oil or MCT oil. The protein source was a newly developed casein hydrolisate also containing minerals, trace elements and vitamins.

Caseins↗
PubMed1977

The activity of galactose-1-phosphate uridyltransferase and galactokinase in human fetal organs.

The activity of galactose-1-phosphate uridyltransferase (transferase) and galactokinase in several organs from human fetuses 7-28 weeks old was measured by using radioactive substrates and column chromatography for product identification. The specific activity of transferase and galactokinase increased with gestational age and reached, at the 28th week, a maximal level of 30.0 and 7.9 nmol/min/mg protein (units) in liver, 4.7 and 2.5 units in kidney, 6.0 and 4.0 units in lung, 6.7 and 2.9 units in spleen, 5.2 and 2.6 units in cardiac muscle, and 4.0 and 1.4 units in skeletal muscle, respectively. The activity in brain, on the other hand, remained quite constant with 1.2 units in the case of transferase and 0.5 units in the case of galactokinase during this period. The activities of both enzymes in the liver of children were slightly lower than the highest fetal level during the period of pregnancy studied. Galactokinase activity in fetal erythrocytes was approximately 4 times higher and the transferase activity approximately 30% higher than in adults. The Km value of fetal liver transferase for galactose-1-phosphate was found to be 0.330-0.357 mM and that of galactokinase for galactose, 0.265-0.277 mM.

Child↗
PubMed1977

[Autoimmune hemolytic anaemia in childhood. Review and report of one case (author's transl)].

Autoimmune hemolytic anaemia (AIHA) in childhood is associated with antibodies produced by the patient himself, which coat his red cells causing their hemolysis. Although in some cases no underlying disease could be found, in the majority of children a virus etiology is apparent. There are very few reports regarding the use of treatment with immunsuppressive agents and the possible benefit. The article reports one case of AIHA. The patient developed at age 6 months a prolonged chronic form of AIHA complicated by thrombopenic purpura. The recent knowledge about pathogenesis, clinical phenomena, serology and prognosis is discussed. Treatment with corticosteroids, azathioprine or cyclophosphamide failed to benefit. Splenectomy and 6-mercaptopurin therapy (3 months) resulted in a complete remission.

Anemia, Hemolytic, Autoimmune↗
PubMed1976

A method for galactose-1-phosphate uridyltransferase assay and the separation of its isozymes by DEAE-cellulose column chromatography.

A simplified radioactive assay for galactose-1-phosphate uridyltransferase (EC 2.7.7.12) using a small DEAE-cellulose column for the identification of the endproduct (uridine diphosphate galactose) is described. The enzyme activities in red blood cell hemolysates of normal subjects are in the range of 24 to 33 (average 30.3) mumol UDPgalactose produced per g hemoglobin per h and in fibroblasts 0.39 and 1.39 (average 0.71) nmol per mg protein per min. Furthermore, different isozymes of red blood cell galactose-1-phosphate uridyltransferase were separated on DEAE-cellulose columns. In the case of a normal genotype, most of the enzyme activity is eluted at the earlier fractions with the low molar phosphate buffer, whereas the Duarte variant appeared at later fractions with higher molar phosphate buffer.

Chromatography, DEAE-Cellulose↗
PubMed1976

The influence of phenobarbital on carbohydrate metabolism in developing rat liver.

The influences of phenobarbital (PB) on enzymes of the carbohydrate metabolism in rat liver are examined during pre- and postnatal development. The following results are obtained: (1) PB generally increases G-6-Pase before and after birth. (2) Both the active and the inactive forms of phosphorylase are increased significantly during the prenatal periods. During the postnatal periods, mainly the active form of phosphorylase is influenced by PB. (3) Total glycogen synthetase is increased by PB during prenatal development but decreased during postnatal development. (4) The activity of alpha-glucosidase is increased during the prenatal period. (5) The activity of F-6-PK and 6-PGDH are decreased during the prenatal periods and G-6-PDH activity is decreased during both pre- and postnatal periods.

Animals↗
PubMed1976

[Congenital enzyme deficiency in carbohydrate metabolism. Its significance for clinical pediatrics and human biochemical genetics (author's transl)].

A review of the enzyme deficiencies of carbohydrate metabolism known at the present time is given. Through prominent clinical symptoms and consideration of food as a pathological agent, it is possible to suspect the various diseases before the results of the biochemical determinations are available. On account of the sometimes striking course, therapy can consequently be started at the earliest possible moment.

Carbohydrate Metabolism, Inborn Errors↗