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Cytochrome oxidase deficiency in Lowe syndrome

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Journal of Inherited Metabolic Disease

Abstract

We report on a patient with complex IV deficiency who in later clinical course was diagnosed as a Lowe syndrome. Mitochondrial abnormalities can be present in Lowe syndrome and might lead to misdiagnosis, additionally because clinical features can be overlapping.

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REFERENCES

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Authors and Affiliations

  1. Metabolic Unit, Great Ormond Street Hospital for Children, London, UK

    P. M. Cifelli & S. Grünewald

  2. Neurometabolic Unit, Department of Clinical Biochemistry, National Hospital, London, UK

    I. Hargreaves

  3. Department of Pediatrics, University of Essen, Hufelandstr. 55, 45122, Essen, Germany

    S. Grünewald

  4. Department of Pediatrics, University of Essen, Hufelandstr. 55, 45122, Essen

    S. Grünewald

Authors
  1. P. M. Cifelli
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  2. I. Hargreaves
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  3. S. Grünewald
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Correspondence to S. Grünewald.

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Cifelli, P.M., Hargreaves, I. & Grünewald, S. Cytochrome oxidase deficiency in Lowe syndrome. J Inherit Metab Dis 25, 411–412 (2002). https://doi.org/10.1023/A:1020112119716

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  • DOI: https://doi.org/10.1023/A:1020112119716

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