In:
Journal of Inherited Metabolic Disease, Wiley, Vol. 15, No. 4 ( 1992-07), p. 448-455
Kurzfassung:
Mitochondrial disorders have long been regarded as neuromuscular diseases only. In fact, owing to the ubiquitous nature of the oxidative phosphorylation, a broad spectrum of clinical features should be expected in mitochondrial disorders. Here, we present eight puzzling observations which give support to the view that a disorder of oxidative phosphorylation can give rise to any symptom in any organ or tissue with any apparent mode of inheritance. Consequently, we suggest giving consideration to the diagnosis of a mitochondrial disorder when dealing with an unexplained association of symptoms, with an early onset and a rapidly progressive course involving seemingly unrelated organs. Determination of lactate/pyruvate and ketone body molar ratios in plasma can help to select patients at risk for this condition.
Materialart:
Online-Ressource
ISSN:
0141-8955
,
1573-2665
Sprache:
Englisch
Verlag:
Wiley
Publikationsdatum:
1992
ZDB Id:
2006875-X
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