Summary
We report 8 cases of severe cytochromec oxidase deficiency with onset in the neonatal period. Clinical symptoms were heterogeneous: antenatal cerebral malformations, neurological distress with ketoacidosis, severe myopathy, or isolated respiratory control failure. Lactic acid was elevated in blood and/or CSF in 7 cases. Muscle biopsy (7 patients), liver biopsy (4 patients), and cultured skin fibroblasts (7 patients) were used to assess the cytochromec oxidase deficiency. Among the patients, the enzymatic defect differed in the level of residual activity, expression in different tissues and subunit composition in muscle (as analysed by immunohistochemistry). Southern blot analysis of the mitochondrial DNA was normal in 7 patients. The heterogeneity of cytochromec oxidase deficiency was therefore demonstrated by these clinical presentations and by the biochemical assessment of the enzyme defect. This reflects, most probably, the diverse nature of the causal mutations.
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Lombes, A., Romero, N.B., Touati, G. et al. Clinical and molecular heterogeneity of cytochromec oxidase deficiency in the newborn. J Inherit Metab Dis 19, 286–295 (1996). https://doi.org/10.1007/BF01799256
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DOI: https://doi.org/10.1007/BF01799256