Davison, J;
Lemonde, H;
Rahman, S;
(2019)
Inherited mitochondrial disease.
[Review].
Paediatrics and Child Health
, 29
(3)
pp. 116-122.
10.1016/j.paed.2019.01.009.
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Abstract
Inherited disorders that affect mitochondrial function are a diverse group of conditions with different pathophysiological mechanisms and highly variable clinical phenotypes. Affected children may present with a defined clinical syndrome or, more commonly, with non-specific signs of mitochondrial disease. Recognition of mitochondrial disease relies on having a high index of suspicion when faced with a multisystem disorder of unclear aetiology, in addition to knowledge of the various defined mitochondrial clinical syndromes. Evidence of mitochondrial dysfunction should be sought from a variety of organ systems using both functional and biochemical testing. Recent advances in genomic technology are changing the approach to diagnosis. Treatment of mitochondrial disease requires multi-disciplinary supportive management to address multi-systemic features. Disease-specific therapies are available for a small number of conditions, and a number of novel therapies are under evaluation.
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