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  • 1
    Electronic Resource
    Electronic Resource
    Striatal degeneration in glutaric acidaemia type II (1989)
    Springer
    Acta neuropathologica 77 (1989), S. 554-556 
    Details
    ISSN: 1432-0533
    Keywords: Glutaric acidaemia type II ; Striatal degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A girl of first cousin parents presented in the 1st year of life with a progressive neurological disease with muscle weakness and hypotonia, accompanied later by dystonia. Investigations, including gas chromatography of urine, showed no abnormality. Autopsy showed marked neuronal loss and gliosis in the putamen and globus pallidus. The activity of glutaryl-CoA dehydrogenase in cultured fibroblasts was normal, but the activity of electron transfer flavoprotein was markedly diminished. Retrospective study of urine by capillary gas chromatography/mass spectrometry showed small amounts of glutaric and other organic acids. This is the first report of striatal degeneration in association with glutaric acidaemia type II. The neuropathological changes were milder than those in glutaric acidaemia type I.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687259
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 484-488 
    Details
    ISSN: 1432-1076
    Keywords: 3-Methylglutaconic acid ; Leucine ; Lactic acidosis ; Ketoacidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Persistent excretion of 3-methylglutaconic acid was found in a 6-month-old infant with multiple minor physical malformations and delayed development. During two episodes of intercurrent viral illness, the patient developed severe metabolic acidosis and excreted large amounts of lactate, 3-hydroxybutyrate and acetoacetate. The excretion of 3-methylglutaconic acid did not change during these episodes, nor did it increase following leucine loading. In vitro studies suggest that in this patient, as in the majority of other patients with 3-methylglutaconic aciduria, a primary defect in leucine metabolism is not responsible for the biochemical abnormality.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441599
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency (1993)
    Springer
    Journal of inherited metabolic disease 16 (1993), S. 392-398 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The glycine conjugates of isocaproic, 4-methylhexanoic, 7-hydroxyoctanoic and 8-hydroxyoctanoic acids have been identified in the urine of children with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency using gas chromatography-mass spectrometry of the trimethylsilyl derivatives. A quantitative study showed that the glycine conjugates of isocaproic and 4-methylhexanoic acids were excreted during acute episodes and in smaller amounts when subjects were asymptomatic. The glycine conjugates of 7-hydroxyoctanoic and 8-hydroxyoctanoic acids were detectable during acute episodes. None of the conjugates was detected in controls or controls receiving a diet containing medium-chain triglycerides. It is suggested that the glycine conjugates of isocaproic acid and 4-methylhexanoic acid are metabolites of branched-chain fatty acids and that they are specific for MCAD deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00710286
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    In vivo disposal of phenylalanine in phenylketonuria: A study of two siblings (1996)
    Springer
    Journal of inherited metabolic disease 19 (1996), S. 595-602 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Mutation at the phenylalanine hydroxylase (PAH) locus is a cause of hyperphenylalaninaemia. Genotype-phenotype correlation relative to the predicted PAH activity may differ at the metabolite level and at the IQ level in untreated phenylketonuria. Discordant metabolic phenotypes have been noted in siblings; influences on transport and metabolism of phenylalanine determining homeostasis may account for differing metabolic phenotypes. We report two siblings of different sex and identical genotype at the PAH locus who demonstrate a difference in phenylalanine disposal. A stable isotope infusion of [2H5]phenylalanine was used to measure protein turnover, phenylalanine hydroxylation and excretion of phenylalanine transamination metabolites. The siblings were observed to have identical hydroxylation rates under the experimental conditions of the study while manifesting differences in renal excretion rates of phenylalanine transamination metabolites and protein accretion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799832
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate (1997)
    Springer
    Journal of inherited metabolic disease 20 (1997), S. 39-42 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A neonate at risk for succinic semialdehyde dehydrogenase deficiency was investigated on day 1. The urine level of 4-hydroxybutyrate was only slightly elevated (23 µmol/mmol of creatinine; controls 1.6-14, n=18). This value was considerably less than those found for older children with succinic semialdehyde dehydrogenase deficiency and made interpretation of the result uncertain. The diagnosis of succinic semialdehyde dehydrogenase deficiency was confirmed by enzyme assay, and repeat urine testing showed a steady increase in the level of 4-hydroxybutrate to 359 µmol/mmol at 6 months.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005353305705
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    Atypical pyroglutamic aciduria: possible role of paracetamol (1990)
    Springer
    Journal of inherited metabolic disease 13 (1990), S. 755-756 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01799581
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole (1995)
    Springer
    Journal of inherited metabolic disease 18 (1995), S. 306-312 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Trimethylaminuria is an autosomal recessive disorder involving deficientN-oxidation of the dietary-derived amine trimethylamine (TMA). TMA, a volatile tertiary amine, accumulates and is excreted in urine of patients with deficient TMA oxidase activity. Treatment strategies for this condition are limited. We report a new stable-isotope dilution method for rapid sequential analysis of TMA concentrations and the clinical and biochemical response to treatment with metronidazole.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00710420
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    Paper (German National Licenses)
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