Abstract
Oxidative phosphorylation defects are a common group of inborn errors of metabo lism. Patients may present to a variety of different physicians and at any age. Whilst some patients present with a characteristic phenotype that allows early diagnosis, in many the clinical features are suggestive rather than diagnostic. Neurological features are often prominent in all age groups, but the involvement may be diffuse or remarkable specific (for example optic atrophy alone). In other patients, involvement of other systems is more prominent and in some there is evidence of multiorgan failure. Clinical investigations such as imaging, cardiac studies, and endocrine investigations are often supportive of a diagnosis and form an important part of the clinical investigation. The clinical diagnosis of defects of oxidative phosphorylation is likely to remain a challenge with only the alert clinician identifying the difficult cases.
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McFarland, R., Chinnery, P.F., Taylor, R.W., Schaefer, A.M., Turnbull, D.M. (2004). Clinical Diagnosis of Oxidative Phosphorylation Disorders. In: Oxidative Phosphorylation in Health and Disease. Medical Intelligence Unit. Springer, Boston, MA. https://doi.org/10.1007/0-387-26992-4_3
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DOI: https://doi.org/10.1007/0-387-26992-4_3
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