La Glycogénose Type II : approche thérapeutique

Thèse d'agrégation de l'enseignement supérieur (Faculté de médecine) -- UCL, 197

Corrélations cliniques et biochimiques dans certaines myopathies métaboliques.

Muscular glycogenosis is a disease resulting from genetical abnormalities altering an enzyme which is involved in glycogen metabolism. In addition to disorders of glycogenosis and glycolysis, there are other pathological processes such as alpha-glycosidase deficiency and diseases associated with abnormal polysaccharide structure. A short review of the various diseases with their particular features is reported

Les glycogénoses musculaires

Muscular glycogenosis is a disease resulting from genetic abnormalities altering an enzyme which is involved in glycogen metabolism (fig 1). In addition to disorders of glycogenolysis and glycolysis, there are other pathological processes such as acid maltase (alpha-glucosidase) deficiency and diseases associated with abnormal glycogen structure (1,2). Glycolysis (fig 2) is the only metabolic pathway that can produce ATP in the absence of oxygen. It is then easy to understand that any disturbance in this energy pathway can result in dysfunction of the muscle machine and in a number of symptoms which are common to these abnormalities. An overall review of the various diseases know to exist on the glycogenolytic and glycolytic pathway will enable the reader to acquire a better knowledge of their particular features

Brain metabolism in mitochondrial encephalomyopathy: a PET study.

Regional brain glucose metabolism has been studied in a case of mitochondrial encephalomyopathy with ragged red fibers, using positron emission tomography with fluorodeoxyglucose as the tracer. A marked decrease in glucose utilization was found in all gray structures, with a preponderance of metabolic alterations in posterior cortical regions and thalamus and a relative sparing of anterior cortical areas and basal nuclei