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  • 1
    Electronic Resource
    Electronic Resource
    Diagnosis and management of glutaric aciduria type I (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 326-340 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs between 6 and 18 months of age and is probably linked to changes in metabolic demand caused by normal maturational changes and superimposed catabolic stress. Recognition of this biochemical disorder before the brain has been injured is essential to outcome. Diagnosis depends upon the recognition of relatively nonspecific physical findings such as hypotonia, irritability and macrocephaly, and on performance of urine organic acid quantification by gas chromatography–mass spectrometry or selective searches of urine or blood specimens by tandem mass spectrometry for glutarylcarnitine. The diagnosis may also be suggested by characteristic findings on neuroimaging. In selected patients diagnosis can only be reached by enzyme assay. Specific current management by the authors of this paper includes pharmacological doses of L-carnitine, as well as dietary protein restriction. Metabolic decompensation must be treated aggressively to avoid permanent brain damage. Multicentre studies are needed to establish best methods of diagnosis and optimal therapy of this disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005390105171
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I (1999)
    Springer
    Journal of inherited metabolic disease 22 (1999), S. 867-882 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Glutaric aciduria type I (GA I) is a recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). The biochemical hallmark of the disease is the accumulation of glutaric acid and, to a lesser degree, of 3-hydroxyglutaric acid and glutaconic acid in body fluids and tissues. A substantial number of patients show only slightly, intermittently elevated or even normal urinary excretion of glutaric acid, which makes early diagnosis and treatment to prevent the severe neurological sequelae difficult. Furthermore, elevated urinary excretion of glutaric acid can also be found in a number of other disease states, mostly related to mitochondrial dysfunction. Stable-isotope dilution assays were designed for both glutaric acid and 3-hydroxyglutaric acid and their diagnostic sensitivity and specificity were evaluated. Control ranges of glutaric acid in urine were 1.1–9.7mmol/mol creatinine before and 4.1–32 after hydrolysis. The respective values of 3-hydroxyglutaric acid were 1.4–8.0 and 2.6–11.7mmol/mol creatinine. For other body fluids, control ranges in μmol/L were: for glutaric acid 0.55–2.9 (plasma), 0.18–0.63 (cerebrospinal fluid) and 0.19–0.7 (amniotic fluid); and for 3-hydroxyglutaric acid, 0.2–1.36 (plasma), 〈0.2 (cerebrospinal fluid) and 0.22–0.41 (amniotic fluid). Twenty-five patients with GCDH deficiency were studied. Low excretors (12 patients) were defined by a urinary glutaric acid below 100mmol/mol creatinine down into the normal range, while high excretors (13 patients) had glutaric acid excretions well above this value. With and without hydrolysis there was an overlap of glutaric acid values between patients and controls. Diagnostic sensitivity and specificity of 100% could only be achieved by the quantitative determination of 3-hydroxyglutaric acid with the newly developed stable-isotope dilution assay, allowing an accurate diagnosis of all patients, regardless of the amount of glutaric acid excreted in urine.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005683222187
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  • 3
    Electronic Resource
    Electronic Resource
    Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe (1994)
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 376-377 
    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/BF00711838
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Rationale Diagnostik bei Verdacht auf Glutarazidurie Typ I (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 652-655 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Glutarazidurie Typ I ; Glutaryl-CoA-Dehydrogenase ; Diagnostik ; Key words Glutaric aciduria type I ; Glutaryl-CoA-dehydrogenase ; Diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary We present an algorithm for the rational diagnosis of glutaric aciduria type I (GA1). Normal urinary organic acids in patients with non-specific clinical features and normal results of brain imaging render the diagnosis highly unlikely, and no further investigations are required. In other patients, the diagnostic strategy depends on the individual clinical, neuroradiological and biochemical findings. GCDH enzyme analysis should be reserved for patients in whom GA1 is very likely.
    Notes: Zusammenfassung Dargestellt wird ein Algorithmus, mit dessen Hilfe eine Glutarazidurie Typ I (GA1) mit rationalem Aufwand zuverlässig diagnostiziert werden kann. Wichtigste Untersuchung ist die genaue Analyse der organischen Säuren im Urin. Ergibt diese ein unauffälliges Ergebnis, sind bei Patienten mit unspezifischer Klinik und untypischen Befunden in der zerebralen Bildgebung keine weiteren Untersuchungen notwendig. Ansonsten richtet sich das diagnostische Vorgehen nach den klinischen, neuroradiologischen und biochemischen Befunden. Die enzymatische Analytik sollte nur bei dringendem Verdacht auf GA1 durchgeführt werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050167
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    Paper (German National Licenses)
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