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  • 1
    Electronic Resource
    Electronic Resource
    Priapism in Fabry's disease during testosterone treatment (1987)
    Springer
    Journal of molecular medicine 65 (1987), S. 925-925 
    Details
    ISSN: 1432-1440
    Keywords: Fabry's disease ; Priapism ; Testosterone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01745504
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  • 2
    Electronic Resource
    Electronic Resource
    Cataract in a fetus at risk for oculo-cerebro-renal syndrome (lowe) (1977)
    Springer
    Journal of molecular medicine 55 (1977), S. 141-144 
    Details
    ISSN: 1432-1440
    Keywords: Oculo-cerebro-renales Syndrom (Lowe) ; Katarakt ; Fetus ; Oculo-cerebro-renal syndrome (Lowe) ; Cataract ; Fetus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary 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.
    Notes: Zusammenfassung Bei einer Schwangeren, die bereits einen Jungen mit Lowe-Syndrom hat, wurde eine Amniocentese durchgeführt. Die Schwangerschaft wurde unterbrochen, nachdem sich in den kultivierten Zellen der Amnionflüssigkeit ein männlicher Karyotyp zeigte und damit eine Wahrscheinlichkeit von 50% für die Geburt eines weiteren Kindes mit dieser X-chromosomal rezessiv erblichen Erkrankung bestand. Der männliche Fet bot die für das Lowe-Syndrom charakteristischen Linsentrübungen. Es bestand ein Lenticonus posterior mit Defekt der hinteren Linsenkapsel; die bisher bekannte kleine, discoide Linse des Lowe-Syndroms entsteht somit möglicherweise durch Verlust von Linsenmaterial bei defekter hinterer Linsenkapsel. Die Aminosäurenkonzentrationen im Fruchtwasser waren mit Ausnahme von deutlichen Erhöhungen von Lysin und Prolin normal.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01490242
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  • 3
    Electronic Resource
    Electronic Resource
    D-penicillamine in pregnancy — to ban or not to ban? (1981)
    Springer
    Journal of molecular medicine 59 (1981), S. 535-537 
    Details
    ISSN: 1432-1440
    Keywords: D-penicillamine ; Pregnancy ; Cystinuria ; Wilson's disease ; Rheumatoid arthritis ; D-Penicillamin ; Schwangerschaft Cystinurie ; M. Wilson ; rheumatoide Arthritis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Kollagenwirkung von D-Penicillamin stellt bei der Behandlung der Cystinurie und des M. Wilson eine unerwünschte Nebenwirkung dar, bei rheumatoider Arthritis und Sklerodermie macht sie jedoch die therapeutische Wirkung aus. Da D-Penicillamin die Placentarschranke überschreitet, muß auch eine teratogene Wirkung bedacht werden. Aus der Literatur sind, zusammen mit zwei eigenen Beobachtungen, die Ausgänge von 87 Schwangerschaften bekannt, darunter 46, in denen während der ganzen Schwangerschaftsdauer D-Penicillamin verabreicht worden war. Zwei Neugeborene der letzteren wiesen schwere Bindegewebsdefekte auf. Die D-Penicillamin-Dosis sollte bei schwangeren Cystinurie- und Wilson-Patientinnen so niedrig wie möglich gehalten werden. Bei Frauen mit rheumatoider Arthritis sollte man D-Penicillamin während der Schwangerschaft durch andere Medikamente ersetzen.
    Notes: Summary The action of D-penicillamine on collagen can cause undesired side-effects in the treatment of cystinuria and Wilson's disease, it is on the other hand essential to the therapy of rheumatoid arthritis and scleroderma. Furthermore D-penicillamine can be potentially teratogenic, since it crosses the placental barrier. From the literature and our own observation of two pregnancies it is shown that among 87 pregnant women who received D-penicillamine 46 cases were treated during the whole period of pregnancy. Two infants from the latter group were found to have severe connective-tissue defects. We suggest that the dose of D-penicillamine in pregnant patients with cystinuria and Wilson's disease should be kept as low as possible. In the case of rheumatoid arthritis D-penicillamine should not be given during pregnancy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01716453
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  • 4
    Electronic Resource
    Electronic Resource
    Occurrence of secondary cystathioninuria in children with inherited metabolic disorders, liver diseases, neoplasms, cystic fibrosis and celiac disease (1978)
    Springer
    European journal of pediatrics 129 (1978), S. 29-35 
    Details
    ISSN: 1432-1076
    Keywords: Secondary cystathionimuria ; Children ; Hereditary metabolic disorders ; Liver diseases ; Neoplasms ; Cystic fibrosis ; Celiac disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Secondary cystathioninuria was found in two of 46 children suffering from tumors, leukemia, liver diseases, inherited metabolic disorders, cystic fibrosis and celiac disease. Of these two patients, one had congenital biliary atresia and the other cytomegalovirus infection. Seven further children had only moderately elevated excretion of cystathionine. It is suggested that secondary cystathioninuria is uncommon in the diseases investigated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441371
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  • 5
    Electronic Resource
    Electronic Resource
    Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 246-249 
    Details
    ISSN: 1432-1076
    Keywords: Molybdenum cofactor deficiency ; Sulphite oxidase deficiency ; Xanthine dehydrogenase deficiency ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine combined with a low serum and urinary uric acid was consistent with xanthine dehydrogenase deficiency. Both deficiencies could be established at the enzyme level. The primary defect giving rise to the combined abnormalities is the absence of a molybdenum cofactor, a molybdenum-containing pterin being an essential component of both enzymes. The patient developed a severe neurological syndrome, brain atrophy and lens dislocation and died at the age of 22 months. Attempts at treatment, such as oral administration of ammonium molybdate, sodium sulphate, d-penicillamine, 2-mercaptoethane sulphonic acid, pyridoxine and thiamine did not influence the clinical course.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441412
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  • 6
    Electronic Resource
    Electronic Resource
    Elevated plasma galactitol levels in patients with congenital cataracts without apparent enzyme defect (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 446-446 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496438
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  • 7
    Electronic Resource
    Electronic Resource
    “Peripheral” tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 228-232 
    Details
    ISSN: 1432-1076
    Keywords: Hyperphenylalaninaemia ; Biopterin ; 6-Pyruvoyl tetrahydropterin synthase ; Peripheral tetrahydrobiopterin deficiency ; Erythrocytes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Four patients in three families with “peripheral” tetrahydrobiopterin deficiency were investigated. They were characterized biochemically by a tetrahydrobiopterin-responsive hyperphenylalaninaemia, a high neopterin/biopterin ratio in urine and plasma, and normal or elevated concentrations of biopterin, homovanillic acid, and 5-hydroxyindole acetic acid in cerebrospinal fluid. From measurements of the activity of erythrocyte 6-pyruvoyl tetrahydropterin synthase (PTS, formerly called phosphate-eliminating enzyme) and phenylalanine loading tests in the patients and their parets, one patient was demonstrated to be heterozygous for PTS deficiency. The others were obviously genetic compounds (allelism) with incomplete PTS deficiency. Three of the children developed normally, two of them under treatment with tetrahydrobiopterin. In the latter two patients, significantly lower concentrations of biopterin, homovanillic acid, and 5-hydroxyindole acetic acid in cerebrospinal fluid were noted at age 7 months (when treatment was interrupted) than those observed at 3 and 5 weeks, respectively. The infant who is heterozygous for PTS deficiency was born small for gestational age and showed a moderately delayed psychomotor development. It is concluded that “peripheral” tetrahydrobiopterin deficiency is caused by a partial PTS deficiency with sufficient activity to cover the tetrahydrobiopterin requirement of tyrosine 3-hydroxylase and tryptophan 5-hydroxylase in brain but not enough for phenylalanine 4-hydroxylase in liver. For therapy, tetrahydrobiopterin, 2–5 mg/kg in a single oral dose per day, is recommended to keep plasma phenylalanine normal. A careful observation of the mental development is indicated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00716465
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  • 8
    Electronic Resource
    Electronic Resource
    Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 665-670 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylglutaconic aciduria ; 3-Methylglutaconyl-CoA hydratase ; Cardiac hypertrophy ; Complex I ; Cytochrome c oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency. Analyses of the respiratory chain in postmortem tissues demonstrated severe impairment of complex I (NADH ubiquinone oxidoreductase) and complex IV (cytochrome c oxidase) activities in skeletal muscle and reduced complex IV activity in heart.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955244
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  • 9
    Electronic Resource
    Electronic Resource
    Sekundäre Cystathioninurie (1971)
    Springer
    European journal of pediatrics 110 (1971), S. 46-58 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF00446345
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  • 10
    Electronic Resource
    Electronic Resource
    Hyperdibasicaminoaciduria in a Turkish infant without evident protein intolerance (1979)
    Springer
    European journal of pediatrics 131 (1979), S. 33-41 
    Details
    ISSN: 1432-1076
    Keywords: Hyperdibasicaminoaciduria ; Lysinuric protein intolerance ; Loading tests ; Lysine ; Alanine ; Arginine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The first patient of Turkish descent with hyperdibasicaminoaciduria is described. Recurrent diarrhea was observed only during the first three months of life. The infant exhibited low plasma levels of ornithine and arginine. Intestinal absorption of lysine was decreased. Hyperammonemia was noticed only after an i.v. alanine load. It was prevented by addition of arginine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442783
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