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  • Lactic acidosis  (1)
  • Pyruvate dehydrogenase deficiency  (1)
  • 1
    Digitale Medien
    Digitale Medien
    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
    Schlagwort(e): Lacticacidaemia ; Pyruvate dehydrogenase deficiency ; Protein polymorphism ; Developmental abnormalities
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00441736
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  • 2
    Digitale Medien
    Digitale Medien
    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
    Schlagwort(e): Marfan ; NADH-coenzyme Q reductase ; Lactic acidosis ; Respiratory chain ; Mitochondrial myopathy
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01955904
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