Glykosylaatioreaktiohäiriöihin

Glykosylaatioreaktiohäiriöihin, known in English as glycosylation disorders or disorders of glycosylation (CDG), are a group of rare genetic metabolic diseases. These disorders arise from defects in the complex process of glycosylation, which is the enzymatic addition of carbohydrate chains (glycans) to proteins and lipids. Glycans are crucial for a wide range of biological functions, including protein folding, stability, cell-cell recognition, immune responses, and signaling pathways.

There are over 100 known types of CDG, each caused by mutations in different genes involved in the glycosylation pathway. These defects can affect the synthesis of glycans, their attachment to target molecules, or the modification of existing glycans. The clinical manifestations of CDG are highly variable and can affect multiple organ systems, leading to a wide spectrum of symptoms. Common features include neurological abnormalities such as intellectual disability, developmental delay, seizures, and ataxia. Other affected systems can include the liver, eyes, heart, and skeletal system, leading to issues like liver dysfunction, vision problems, heart defects, and bone abnormalities.

Diagnosis of CDG typically involves biochemical testing of serum transferrin glycosylation patterns, which can indicate a defect in glycosylation. Genetic testing is then used to confirm the specific type of CDG and identify the causative gene mutation. Currently, there is no cure for most CDG types, and treatment is primarily supportive, focusing on managing symptoms and improving quality of life. Dietary interventions, such as supplementation with monosaccharides like mannose, may be beneficial for certain types of CDG. Research into therapeutic strategies, including enzyme replacement therapy and gene therapy, is ongoing.