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  • 1990-1994  (3)
  • DNA diagnosis  (1)
  • Electron microscopic histochemistry  (1)
  • Methylmalonic acidaemia  (1)
  • 1
    ISSN: 1432-0533
    Schlagwort(e): Mitochondrial myopathy ; Cytochrome c oxidase ; Mosaicism of mitochondria ; Electron microscopic histochemistry
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary Electron microscopic histochemistry was applied to the study of cytochrome c oxidase activity in each mitochondrion of biopsied muscles from four patients with mitochondrial myopathy [one case of fatal infantile mitochondrial myopathy, one case of myoclonus epilepsy associated with ragged-red fibers (MERRF), and two cases of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)]. In the patient with fatal infantile mitochondrial myopathy, intercellular heterogeneity of mitochondria was recognized. In the three patients with either MERRF or MELAS, cytochrome c oxidase activity was segmentally changed from positive to negative within single muscle fibers. In the two patients with MELAS, small groups of positive-stained mitochondria were located among negative-stained mitochondria in the negative segment of a few muscle fibers. These findings revealed that there were heterogeneous populations of normal and abnormal mitochondria intracellularly or intercellularly within the muscles of these patients.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 151 (1992), S. 154-159 
    ISSN: 1432-1076
    Schlagwort(e): Medium-chain acyl-CoA dehydrogenase deficiency ; Sudden infant death ; Reye syndrome ; Mass screening ; DNA diagnosis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is responsible for about 90% of mutant MCAD alleles in Caucasians. Patients with this type of mutation have a variety of symptoms, indicating that the clinical heterogeneity of MCAD deficiency may not be caused entirely by genetic heterogeneity. Screening for the mutation among newborns in England, Australia, and United States of America indicates the prevalence of carriers to be 1 in 40–107, suggesting the high incidence of the mutation. Since presymptomatic diagnosis and appropriate dietary management are important in MCAD deficiency to prevent life-threatening complications, the relatively high incidence of this disorder may warrant population screening. The most common MCAD mutation can now be detected by DNA diagnostic methods using Guthrie cards. This makes it possible to screen a population efficiently for this potentially fatal disorder.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 3
    ISSN: 1432-1076
    Schlagwort(e): Methylmalonic acidaemia ; Type 4 renal tubular acidosis ; Chronic renal disease ; Tubulo-interstitial nephritis ; Hyporeninaemia
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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