Case reportAssessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy
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Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency
2016, Molecular Genetics and Metabolism ReportsCitation Excerpt :This is due largely to several variables introduced in each case such as the variability in mutations expressed, age at the initiation of the treatment, level of fat content in the diet, quality of dietary fats, length of treatment, acceptability/adherence to the diet, etc. In two studies using magnetic resonance imaging, a ketogenic diet was associated with clinical stabilization and arrest of progressive cerebral lesions, and appearance of new lesions upon discontinuation of the diet [18,51]. Furthermore, a nearly carbohydrate-free diet initiated shortly after birth may be useful in the treatment of PDH (and hence PDC) deficiency and recommended carnitine supplementation to maintain normal plasma free carnitine levels due to increased fatty acid oxidation in the patients [20].
An adult case of Leigh disease
2004, Clinical Neurology and NeurosurgeryChapter 8 Defects of Pyruvate Dehydrogenase and Intermediary Metabolism
2002, Blue Books of Practical NeurologyMagnetic resonance techniques in the evaluation of the fetal and neonatal brain
2001, Seminars in Pediatric NeurologyProton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency
1999, Magnetic Resonance ImagingSevere infantile anorexia in the French island of reunion: A new autosomal recessive disease?
1999, Archives de Pediatrie