Module 10: Complex molecules & organelles metabolism (II)

The metabolism of complex molecules and organelles is the object of two modules (Module 9 and 10). Module 10 in centred on peroxisome, mitochondrion and their related diseases and on congenital disorders of glycosylation. A specific attention is reserved to the biochemical and clinical presentation and to the diagnosis of peroxisomal biogenesis disorders. Mitochondria, mitochondrial DNA and inheritance, as well as nuclear genes coding for mitochondrial proteins are described. Abnormalities in mitochondrial maintenance and dynamics and mitochondrial diseases, with their clinical and genetic diagnosis, are also addressed. The module also includes a description of congenital disorders of glycosylation (CDG), a large, rapidly expanding, group of rare monogenic disorders based on several defects that block the addition of sugar “trees”, called glycans, to proteins and lipids in cells throughout the body. The module describes their phenotypic manifestations and their diagnosis.

Authors: François Eyskens, Bwee Tien Poll-The, Ronald Wanders, Agnès Rötig, Daisy Rymen