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  • 1
    Electronic Resource
    Electronic Resource
    Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection
    Amsterdam : Elsevier
    Clinica Chimica Acta 198 (1991), S. 209-227 
    Details
    ISSN: 0009-8981
    Keywords: Carrier detection ; Cholesterol biosynthesis ; Mevalonic aciduria ; Prenatal diagnosis ; Stable isotope dilution assay
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(91)90355-G
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  • 2
    Electronic Resource
    Electronic Resource
    Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 570-575 
    Details
    ISSN: 1432-1076
    Keywords: Key words Holocarboxylase synthetase deficiency ; Biotin therapy ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical and biochemical findings in a family with late-onset holocarboxylase synthetase (HCS) deficiency are described. The index patient had two life-threatening episodes of metabolic decompensation at the age of 13 and 18 months with ketotic hypoglycaemia, vomiting and progressive loss of consciousness. The child recovered without biotin therapy. Organic aciduria characteristic of multiple carboxylase deficiency (MCD) was found, however, the key metabolites were only slightly elevated in some samples. Biotinidase deficiency was considered but excluded by the finding of normal plasma biotinidase activity. The correct diagnosis was made only at the age of 19 months when severe MCD was found in lymphocytes in the presence of normal plasma biotin concentration. HCS deficiency was confirmed by fibroblast studies. Biotin therapy (20 or 40 mg/day) prevented further episodes and normalized biochemical parameters with so far normal development. During two subsequent pregnancies, 10 mg biotin/day was administered to the mother from the 20th week of gestation. At delivery plasma biotin in cord blood samples was 3–4 times higher than in maternal plasma. The 2nd child was unaffected. In the 3rd pregnancy prenatal diagnosis was performed at 16 weeks of gestation. The concentration of methylcitrate in amniotic fluid was within the normal range and that of 3-hydroxyisovalerate only slightly elevated. However, enzyme assays in cultured amniotic fluid cells were consistent with an affected fetus. At birth, carboxylase activities in lymphocytes of this newborn were only moderately decreased to 37% of mean normal. HCS deficiency was confirmed postnatally in fibroblasts. Development remains normal on biotin therapy (20 mg/day). Conclusion Prenatal diagnosis in families with milder forms of HCS deficiency has to be performed by enzyme assays in cultured amniotic cells since organic acid analysis of amniotic fluid may be inconclusive in affected fetuses. Biotin administered prenatally is effectively taken up by the fetus and prevents functional deficiency of the carboxylases in an affected newborn.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050881
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  • 3
    Electronic Resource
    Electronic Resource
    Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia (1978)
    Springer
    European journal of pediatrics 128 (1978), S. 197-205 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidemia ; Organic acidemias ; Organic acidurias ; Inherited disorders of the metabolism of organic acids ; 2-Methyl-3-oxovaleric acid ; Liver histology in propionic acidemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Nach einer kurzen Erläuterung der biochemischen Grund-lagen wird am Beispiel eines eigenen Falles von Propionacidämie auf die Frühsymptomatik (vermehrte Schläfrigkeit, Muskelhypotonie, Trinkschwäche, Hypothermie, metabolische Acidose, Ketonurie, Erbrechen), die durchgeführten Therapieversuche, die Obduktionsbefunde und auf Urinuntersuchungen mit Hilfe der Gaschromatographie und der Gaschromatographie-Massenspektrometrie eingegangen. Diese Untersuchungen ergaben, daß neben den bei Propionacidämie bekanntermaßen im Urin ausgeschiedenen Metaboliten, wie Propion-, 3-Hydroxypropion- und Methylcitronensäure, auch 2-Methyl-3-oxovaleriansäure, das Kondensationsprodukt zweier Moleküle Propionyl-CoA, in nennenswertem Umfang synthetisiert und im Harn nachgewiesen werden kann.
    Notes: Abstract A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding, hypothermia, metabolic acidosis, ketonuria and vomiting. Investigation by gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS) revealed the excretion of fairly high amounts of 2-methyl-3-oxovaleric acid, a condensation product of two molecules of propionyl-CoA, as well as the known pathological metabolites such as propionic, 3-hydroxypropionic and methylcitric acids. Among the post mortem findings the histological studies of the liver were the most remarkable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00444305
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    Paper (German National Licenses)
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