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  • Fanconi syndrome  (1)
  • Nicotinamide deficiency  (1)
  • Tryptophan metabolism  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Mitochondrial phosphoenolpyruvate carboxykinase deficiency (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 46-50 
    Details
    ISSN: 1432-1076
    Keywords: Phosphoenolpyruvate carboxykinase ; Hypoglycaemia ; Giant cell hepatitis ; Fanconi syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 3-month-old girl presented with anorexia, failure to thrive and drowsiness. She was mildly icteric with hepatomegaly and peripheral oedema. Disordered liver function tests were associated with the biopsy appearances of a giant cell hepatitis and with a Fanconi syndrome. At the age of 16 weeks she collapsed with profound hypoglycaemia. Fasting also provoked hypoglycaemia with lactic acidaemia. She became increasingly irritable and hypotonic and, although initially liver and renal function improved, she deteriorated and died of hepatocellular failure and septicaemia. A post-mortem revealed massive fatty degeneration of the liver. The activity of phosphoenolpyruvate carboxykinase in her cultured skin fibroblasts was 16% of controls. Her brother died at the age of 4 weeks of sudden infant death syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441851
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Pellagra with colitis due to a defect in tryptophan metabolism (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 498-502 
    Details
    ISSN: 1432-1076
    Keywords: Kynurenine hydroxylase ; Tryptophan metabolism ; Nicotinamide deficiency ; Pellagra ; Colitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 9-year-old girl presented with a red scaly rash confined to sun-exposed areas which started at 2 years of age and had the appearance of pellagra. Investigation of urinary tryptophan metabolites following an oral tryptophan load, showed increased excretion of kynurenine and kynurenic acid but reduced excretion of 3-hydroxy-kynurenine, xanthurenic acid and N1-methyl nicotinamide. These results indicated a defect in the hydroxylation of kynurenine, an important reaction in the synthesis of the nicotinamide nucleotide coenzymes, NAD and NADP, from tryptophan. The patient went on to develop severe colitis and psychological changes. All her symptoms responded to treatment with nicotinamide.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01958432
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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