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Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.

Abstract：

:We report 8 cases of severe cytochrome c 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 cytochrome c 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 cytochrome c 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.

journal_name

J Inherit Metab Dis

journal_title

Journal of inherited metabolic disease

authors

Lombes A,Romero NB,Touati G,Frachon P,Cheval MA,Giraud M,Simon D,Ogier de Baulny H

doi

10.1007/BF01799256

subject

Has Abstract

pub_date

1996-01-01 00:00:00

pages

286-95

issue

3

eissn

0141-8955

issn

1573-2665

journal_volume

19

pub_type

杂志文章

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