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Digitale Medien

Lacticacidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH (1983)

Robinson, B. H. ; Taylor, Jennifer ; Francois, B. ; [weitere]

Springer

European journal of pediatrics 140 (1983), S. 98-101

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ISSN: 1432-1076

Schlagwort(e): Lacticacidosis ; Neurological deterioration ; Redox disequilibrium

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract Two patients, one dying at 25 days and one at 20 months had ‘chronic’ lactic acidaemia with a high lactate to pyruvate ratio. Both showed EEG abnormalities and seizure activity and both died of respiratory failure. Investigation of cultured skin fibroblasts from these patients revealed normal pyruyate dehydrogenase and pyruvate carboxylase activities but the cells showed a decreased ability to oxidise pyruvate which was returned to normal on the addition of methylene blue. Subsequent investigations revealed that the mitochondria from the patients' cells could oxidise pyruvate normally but that the cells had an abnormal NAD to NADH ratio under standard conditions of incubation. It was concluded that both children had a redox disequilibrium in the cytoplasmic compartment due to a problem in transporting reducing equivalents from the cytoplasmic to the mitochondrial compartments.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00441651

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Digitale Medien

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency (1993)

Christodoulou, J. ; Petrova-Benedict, R. ; Robinson, B. H. ; [weitere]

Springer

European journal of pediatrics 152 (1993), S. 428-432

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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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