4

Disorders affecting the metabolism of complex macromolecules and organelles

The proper functioning of complex macromolecules and organelles depends on the balance between biological processes, including synthesis, modification, and degradation.
When any of these processes become disrupted, it can lead to a wide range of disorders. Defects in the synthesis or modification of complex molecules can result in the production of dysfunctional or nonfunctional proteins. Similarly, issues with organelles (which are specialized compartments within cells that perform specific functions) in the processes of biogenesis, dynamics, or interactions can impair their ability to perform their essential functions, resulting in cellular dysfunctions and several clinical presentations.

4.1

Congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG) represent a diverse group of…
4.2

Disorders of organelle biogenesis, dynamics and interaction

This group consists of heterogeneous disorders which affect the biogenesis…
4.3

Disorders of complex molecule degradation

This group comprises those who are generally known as lysosomal…

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