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  • Electronic Resource  (2)
  • Lactic acidosis  (1)
  • Pyruvate dehydrogenase deficiency  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 445-450 
    Details
    ISSN: 1432-1076
    Keywords: Lacticacidaemia ; Pyruvate dehydrogenase deficiency ; Protein polymorphism ; Developmental abnormalities
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In three infants with neonatal lacticacidaemia, a deficiency in the E1 (pyruvate dehydrogenase) component of the pyruvate dehydrogenase complex was demonstrated in skin fibroblast cultures. Residual activites of the pyruvate dehydrogenase complex in the activated state were 1.6%, 3.9% and 18.8% of control values, respectively. Immunoprecipitation of extracts of cultures skin fibroblasts grown on 35S-methionine with anti-pyruvate dehydrogenase complex antibody revealed an abnormality in the E1α-component of these three patients when visualised after sodium dodecyl sulphate/polyacrylamide gel electrophoresis. This component appeared to have a slightly lower molecular weight than did this protein from control cell strains. Cell strains from other patients with a deficiency of the pyruvate dehydrogenase complex did not exhibit this defect. Three patients also showed dysmorphism and developmental abnormalities of the central nervous system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441736
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 428-432 
    Details
    ISSN: 1432-1076
    Keywords: Marfan ; NADH-coenzyme Q reductase ; Lactic acidosis ; Respiratory chain ; Mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. The presence of persistent lactic acidosis led to studies which disclosed mitochondrial complex I deficiency. We speculate that this unusual association may be due to the combination of an inherited mutation affecting complex I activity along with a de novo mutation disrupting the corresponding locus and an adjacent NMS locus on the homologous autosome. The possibility that the phenotype observed in this patient is directly due to the mitochondrial defect cannot be excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955904
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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