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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 47 (1969), S. 214-220 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 1. With a column chromatographic technique the excretion of cadaverine and putrescine has been estimated in the urine of normal immature and mature newborns, infants, preschool children, adults, as well as in the urine of patients with cystinurie, cystinlysinurie, intestinal malabsorption, enteritis, and vitamin D-deficiency rickets. 2. Healthy adults, children and most of the infants and mature newborns did not excrete diamines in amounts which exceed 0,1 µmoles/100 ml of urine. In the urine of 3 out of 8 premature infants cadaverine (0.012 to 0.082 µmoles/mg of creatinine) have been found. 3. 8 out of 11 urines from infants with untreated vitamin D-deficiency rickets contained cadaverine (0.007 to 0.69 µmoles/mg of creatinine) and one of them putrescine (0.132 µmoles/mg of creatinine). Only two of six children with untreated malabsorption syndromes excreted small amounts of putrescine (0.005 µmoles/mg of creatinine) and one child cadaverine (0.013 µmoles/mg of creatinine). None or insignificant amounts have been found in the infant group with enteritis. 4. The estimation of the diamine excretion in cystinuria has been performed in 28 urines from three patients with classical cystinuria (2 of type I). The excretion of cadaverine fluctuated between 〈 0.1 µmoles/100 ml of urine and 114,2 µmoles/100 ml of urine and the excretion of putrescine between 〈 0,1 µmoles/100 ml of urine and 2,31 µmoles/100 ml. In two children with cystinlysinuria and atrophic enteropathy cadaverine excretion amounted between 0,09 and 43,2 µmoles/100 ml of urine (1.11 µmoles/mg of creatinine) and the putrescine excretion between 〈 0,1 µmoles/100 ml of urine and 3,2 µmoles/100 ml (0.114 µmoles/mg of creatinine). 5. In some instances, especially in cystinuria and cystinlysinuria, 1,3-diaminopropane, spermidine, and 2,2′-dithiobis(ethylamine) have been found as constituents of urine.
    Notes: Zusammenfassung 1. Die Ausscheidung von Cadaverin und Putrescin im Urin wurde bei folgenden Personengruppen quantitativ bestimmt: Unreife und reife Neugeborene, Säuglinge, Kleinkinder, Erwachsene, Patienten mit Cystinurie, Cystinlysinurie, Malabsorption, Enteritis und Vitamin D-Mangel-Rachitis. 2. Gesunde Erwachsene, Kleinkinder sowie die meisten Säuglinge und reifen Neugeborenen schieden keine Diamine im Urin aus, 3 von 8 Frühgeborenen zeigten dagegen eine Cadaverinausscheidung (0,012–0,082 µMol/mg Kreatinin) und eine Putrescinausscheidung (0,023–0,033 µMol/mg Kreatinin). 3. Bei unbehandelter Vitamin D-Mangel-Rachitis wurde dagegen bei 8 von 10 Patienten eine deutliche Cadaverinausscheidung gefunden (0,007–0,69 µMol/ml Kreatinin). Bei einem dieser Kinder ließ sich außerdem Putrescin im Urin nachweisen (0,132 µMol/mg Kreatinin). Nur 2 von 6 Patienten mit unbehandelten Malabsorptionssyndromen schieden geringe Mengen Putrescin aus (0,005 µMol/mg Kreatinin), eines dieser Kinder hatte etwas Cadaverin (0,013 µMol/mg Kreatinin) im Urin. Keine wesentliche Cadaverin- oder Putrescinausscheidung zeigten die Patienten mit Enteritis. 4. Von 3 Patienten mit klassischer Cystinurie wurden 28 Tagesurine untersucht. Die Cadaverinausscheidung schwankte bei ihnen zwischen weniger als 0,1 µMol/100 ml Urin und 114,2 µMol/100 ml Urin, die Putrescinausscheidung zwischen 〈0,1 µMol/100 ml Urin und 2,31 µMol/100 ml. Bei zwei Kindern mit Cystinlysinurie und atropher Enteropathie bewegte sich die Cadaverinausscheidung zwischen 〈0,1 µMol/100 ml Urin und 43,2 µMol/100 ml Urin (1,11 µMol/mg Kreatinin) und die Putrescinausscheidung zwischen 〈0,1 µMol/100 ml Urin und 3,2 µMol/100 ml Urin (0,114 µMol/mg Kreatinin). 5. Bei einigen Patienten, besonders bei den Patienten mit Cystinurie und Cystinlysinurie, fanden sich zusätzlich noch 1,3-Diaminopropan, Spermidin und 2,2′-Dithiobis(äthylamin) im Urin.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 44 (1966), S. 1076-1081 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 1. The phenylalanine tolerance was estimated after intravenous injection of L-phenylalanine in premature newborns, mature newborns, infants and normal adults. The elimination of phenylalanine from the blood followed the pattern of a monomolecular reaction. The rate of elimination was, therefore, chosen for the comparison of the degree of tolerance. 2. The tolerance of phenylalanine was markedly reduced in most of the prematures; the same was found in some of the mature newborn infants. Compared with the tolerance in adults there was no decrease of phenylalanine tolerance in most of the mature newborns and in all infants. 3. The relation of phenylalanine tolerance to the activity of phenylalanine hydroxylase and to the development of the phenylalanine hydroxylase system was discussed.
    Notes: Zusammenfassung 1. Die Phenylalanin-Toleranz wurde vergleichend bei Frühgeborenen, reifen Neugeborenen, Säuglingen und Erwachsenen bestimmt. Die Untersuchung erfolgte nach intravenöser Injektion von L-Phenylalanin. Die Elimination von Phenylalanin aus dem Blut erfolgte entsprechend einer Exponentialfunktion. Zur Beurteilung des Toleranzgrades wurde die Eliminationshalbwertszeit gewählt. 2. Die Phenylalanin-Toleranz war bei den meisten Frühgeborenen herabgesetzt. Bei reifen Neugeborenen kamen Toleranzverminderungen vor; sie waren jedoch wesentlich seltener. Die meisten Neugeborenen und alle Säuglinge zeigten eine Phenylalanin-Toleranz, die der beim normalen Erwachsenen entspricht. 3. Es werden die Beziehungen diskutiert, die zwischen der Phenylalanin-Toleranz und der Aktivität der Phenylalaninhydroxylase bestehen, und es wird auf die bei neonatalen Tieren beobachteten Aktivitätsverminderung des Phenylalaninhydroxylase-Systems hingewiesen.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 48 (1970), S. 682-688 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Methods for thin-layer chromatography of urinary amino acids on commercially available procoated plates of micro-crystalline cellulose are presented. The urine is desalted by passing it through columns containing Amberlite CG 120 I. The amino acids are eluted by a solution of 5 per cent ammonia. The eluate is taken to dryness and dissolved in such an amount of water that 1 µl corresponds to 1 µg of creatinine. 1 µl is spotted to plates (10×10 cm) by micro pipets. Every urine is developed two-dimensionally by two solvent pairs. First pair: Ethanol-H2O (83:17), first direction, three times developed up to 8 cm, tert-Butanolmethylethylketone-NH3-diethylamine-H2O (35:35:10:0,4:20), second direction, once developed up to 8 cm. Second pair: n-Butanol-acetone-glacial acetic acid-H2O (35:35:10:20), first direction, phenol-formic acid (15 per cent) (250 g+83 ml), second direction, once developed up to 8 cm. Using these solvent pairs it is possible to separate most of the important urinary amino acids and diagnose or suspect most of the known metabolic disorders with a disturbed urinary excretion of amino acids. Phosphoethanolamine, S-sulphocysteine and taurine are lost by desalting the urine. Special problems of detecting and locating some amino acids are discussed.
    Notes: Zusammenfassung Es werden Methoden zur Dünnschichtchromatographie der Harnaminosäuren auf mikrokristalliner Cellulose angegeben. Vor der dünnschichtchromatographischen Trennung wird der Urin (Amberlite CG 120 I, H+-Form; Elution mit 5% igem NH3) entsalzt. Nach Einengen des Eluats zur Trockne und Lösung des Rückstandes in einer auf den Kreatiningehalt des Urins bezogenen Menge Wasser wird der Urin auf Cellulose-Fertigplatten der Fa. Merck AG. aufgetragen. Die Plattengröße beträgt 10×10 cm. Durch Verwendung von zwei Fließmittelpaaren ist es möglich, bei den meisten der bekannten Stoffwechselkrankheiten mit vermehrter Aminosäure-Ausscheidung eine Diagnose oder eine Verdachtsdiagnose zu stellen. Ausnahmen sind lediglich die Hypophosphatasie, der Sulfitoxydase-Mangel und die Taurinurie, da die bei diesen Störungen vermehrt ausgeschiedenen Aminosäuren Phosphoäthanolamin, S-Sulfo-l-cystein und Taurin bei der Entsalzung verloren gehen. Auf spezielle Probleme des Nachweises einzelner Aminosäuren wird eingegangen.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 54 (1976), S. 415-422 
    ISSN: 1432-1440
    Keywords: Hyperlipoproteinemia type I ; Familial hyperlipidemia ; Diet therapy in hyperlipoproteinemias ; Lipoprotein lipase ; Medium chain triglycerides ; Essential fatty acids ; Hyperlipoproteinämie Typ I ; Familiäre Hyperlipidämie ; Diättherapie bei Hyperlipoproteinämie ; Lipoproteinlipase ; Mittelkettige Fettsäuren ; Essentielle Fettsäuren
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Der therapeutische Effekt verschiedener Diäten mit unterschiedlichen Relationen von lang- und mittelkettigem Fett, Kohlenhydraten und Eiweiß wurde bei zwei Geschwistern mit Hyperlipoproteinämie Typ I untersucht. Eine Normalisierung der TG-Werte konnte trotz extrem fettarmer Kost (〈5 g täglich) nicht erreicht werden, da es infolge der relativ kohlenhydratreichen Diät und wahrscheinlich auch wegen der Gabe von MCT zu einer starken Vermehrung der prä-β-Lipoproteine kam. Da es sich um eine lebenslange Therapie handelt, müssen die Risiken einer normal fetthaltigen Kost — vor allem rezidivierende Pankreatitiden durch die exzessiven Chylomikronenspiegel — gegen die einer fettreduzierten und kohlenhydrat-und MCT-reichen Kost — erhöhtes Atheroskleroserisiko durch Hyperpräbetalipoproteinämie — abgewogen werden. Daher erscheinen uns folgende diätetische Richtlinien sinnvoll: 1. Reduktion des langkettigen Fetts auf weniger als 30 g pro Tag, wobei besonders auf eine genügende Linolsäurezufuhr (4–6 g täglich) zu achten ist. 2. Der Kohlenhydratanteil sollte 50 Kalorienprozent nicht überschreiten und vor allem aus Stärke bestehen. 3. Das so entstehende Kaloriendefizit sollte vor allem durch Protein gedeckt werden, was durch spezielle Eiweißanreicherung einzelner Nahrungsmittel möglich ist. 4. Nur bei Schwierigkeiten bei der Einhaltung der eiweißreichen Kost sollte der Einsatz mittelkettigen Fetts erwogen werden.
    Notes: Summary The therapeutic effect of different diets varying in long chain and medium chain triglycerides, carbohydrate, and protein was tested in two siblings with type I hyperlipoproteinemia. Despite administration of an extremely fat reduced diet (〈5 g daily), a normalization of plasma TG could not be obtained because—as a consequence of its high carbohydrate and/or its MCT content—it resulted in a considerable increase in pre-β-lipoproteins. As life long dietary therapy has to be maintained, the risks of a normal fat containing diet (mainly bouts of pancreatitis) and those of a carbohydrate and MCT rich diet (premature atherosclerosis) are to be carefully considered. On the basis of our data we therefore suggest the following dietary regimen: 1. Reduced intake of long chain triglycerides (less than 30 gms per day), but with sufficient amounts of essential fatty acids (4–6 gms linoleate daily). 2. The carbohydrates should not exceed 50% of total calories and ought to consist mainly of starch. 3. The caloric deficit thus generated should be balanced by a high protein intake. This is facilitated by applying a specially protein-enriched food. 4. Medium chain triglycerides may be necessary when adherence to the protein-rich diet turns out to be bad.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 209 (1966), S. 1148-1149 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The purpose of the investigation described in this communication was to estimate the rate of elimination of phenylalanine from the blood. We tested seventeen healthy adults, nine heterozygotes, and six phenylketonurics. First we obtained a fasting specimen of capillary blood by means of a ...
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 110 (1971), S. 46-58 
    ISSN: 1432-1076
    Keywords: Secondary Cystathioninuria ; Cystathionine ; Identification ; Amino Acids ; Liver Diseases
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es werden Methoden dargestellt, mit denen eine quantitativ geringe Cystathioninausscheidung im Urin festgestellt und bewiesen werden kann. Es wurden 5 Kinder gefunden, die eine mäßige Cystathioninausscheidung aufwiesen (14,5–99,0 μMol/Tag). Die klinischen Befunde dieser Patienten werden dargestellt. Drei von ihnen hatten Leberaffektionen, eines eine nichtketotische Hyperglycinämie, und bei einem Kind handelte es sich um ein Neugeborenes mit multiplen Fehlbildungen. Bei allen Fällen lag eine sekundäre Cystathioninurie vor. Die Ursachen, die zu einer sekundären Cystathioninurie führen, werden besprochen.
    Notes: Abstract A secondary cystathionuria was found in two children with liver disease (cirrhosis of unknown etiology, congenital biliary atresia), in one infant with hypercalcemia due to high doses of vitamin D, in one case of non-ketotic hyperglycinemia, and in one infant with multiple malformations. Methods for the determination of cystathionine, when excreted in only small amounts, are outlined.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 129 (1978), S. 139-145 
    ISSN: 1432-1076
    Keywords: Selenium ; Human milk ; Cow's milk ; Cow's milk infant formula
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The selenium content of human milk, cow's milk and cow's milk infant formula were estimated by instrumental neutron activation analysis. The highest values were found in 3 samples of human colostrum (524–865×10-9 g/g dry weight). There was a significant decrease with increasing time post partum. Mature human milk exhibited a selenium content of 230±79×10-9 g/g dry weight. The selenium content of 45 samples of cow's milk from the north-western area of Germany was 200±39×10-9 g/g dry weight. While there was no significant difference between the values of mature human milk and of cow's milk, cow's milk infant formula exhibited significantly (P〈0.01) lower values than human milk. The average selenium content of 107 samples of 10 different commercially available fluid and powdered cow's milk infant formulas (range: 18–171×10-9 g/g dry weight) amounted to about only one third of that in mature human milk.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 127 (1978), S. 75-89 
    ISSN: 1432-1076
    Keywords: Hyperinsulinism ; β-cell hyperplasia ; Nesidioblastosis ; Newborn ; Infants ; Somatostatin ; Electron microscopy ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients with severe hypoglycemia since birth are described. In both hyperinsulinism was demonstrated during spontaneous hypoglycemic attacks or could be provoked by various tolerance tests. In case I considerable obesity and psychomotor retardation was present at the age of one year whereas in case II weight gain was normal and development unaffected. Immunofluorescence microscopic and electron microscopic examination of the pancreas after subtotal pancreatectomy revealed diffuse islet cell hyperplasia with nesidioblastosis in case I and β-cell nesidioblastosis in case II. The hyperplastic and nesidioblastotic areas consisted mainly of β-cells. In addition, an accumulation of somatostatin producing cells was observed in case I, and some cells were found with ultrastructural signs of both endocrine and exocrine function. In both cases, pancreatic insulin release was inhibited by a prolonged somatostatin infusion. The results of tolerance tests did not allow a diagnosis of the underlying pancreatic lesion. In case II, leucine-sensitive hypoglycemia detected soon after birth, was present even after subtotal pancreatic resection. Therapeutic trials with diazoxide in case I and a leucine-restricted diet in case II were only of temporary benefit. After subtotal pancreatectomy there was clinical improvement in both cases, but case II still needs a leucine-restricted diet. The familial occurrence of persistent hypoglycemia in both cases suggests that β-cell nesidioblastosis may be a hereditary disorder.
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  • 9
    ISSN: 1432-1076
    Keywords: Neuronal ceroid-lipofuscinosis ; Serum lecithin pattern ; Arachidonic acid ; Linoleic acid ; Ultrastructural inclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with a progressive neurological disorder beginning at the age of three years is described. Mental and visual disturbances were the first signs, soon followed by ataxia and myoclonic jerks. Fundoscopy revealed a decreased pigmentation of the retina. Ultramicroscopic investigations of muscle and skin disclosed the typical changes seen in the late infantile and juvenile forms of neuronal ceroid-lipofuscinosis. In contrast to the clinical and ultrastructural findings, the fatty acid pattern of the serum lecithin showed a significant increase of arachidonic acid and a corresponding decrease of linoleic acid which is characteristic of the so-called infantile form of neuronal ceroid-lipofuscinosis (Hagberg-Santavuori variant; polyunsaturated fatty acid lipidosis). The obvious heterogeneity of the clinical, histological and laboratory findings within the subgroups of neuronal ceroidlipofuscinosis is briefly discussed.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1076
    Keywords: Selenium ; Glutathione peroxidase ; Selenium deficiency ; Selenium supplementation ; Nutrition
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The diets of 5 patients with phenylketonuria or maple-syrup-urine disease were supplemented with yeast which was rich in selenium. For 120 days the patients received 45 μg Se/day to increase the Se content of their diets to 10–12ng Se/Kjoule. Before supplementation the selenium content of serum (5–15 ng/ml) and whole blood (10–27 ng/ml), and the activity of the erythrocyte glutathione peroxidase (0.19–2.69 U37/g Hb), amounted to only 10–20% of normal. The serum selenium content reached normal values within 4 weeks of supplementation, followed by normalisation of the selenium content of whole blood within 4–8 weeks. Restoration of the activity of erythrocyte glutathione peroxidase took 9 to 15 weeks —the red cell life span. There was a significant positive correlation between the selenium content of the erythrocytes and the activity of erythrocyte glutathione peroxidase.
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