The Congenital Disorders of Glycosylation (CDG) are classifications of heavy-duty genetic ailments and can range from moderate to severely endangering life. A staggering number of more than sixty cases of CDG have been reported. The updates about the diseases are ever changing because of newer symptoms and upcoming developments in knowledge. The body has many naturally ongoing processes among which there is one called the Glycosylation. When there are flaws in this system, it gives rise to the CDGS. In this process innumerable enzymes are utilized to permit the body sugar molecules to join themselves to specific proteins or lipids (fats). In such a scenario, they are given the names glycolipids and glycoproteins individually. Both are required to implement different functions and are crucial to the standard growth and function of the body tissues and organs. The Glycosylation utilizes innumerable kinds of enzymes in as many as hundred steps. If a single enzyme misfunctions, it can give way to a number of severe symptoms, creating all sorts of complications in the system. The earlier classifications of the CDGs were CDG-1 and CDG-2. Although, of late a new classification has also been included. Now, all the CDGS are listed with the short form of the causative gene followed by – CDG.

These CGDS are ailments that are multisystem. This means that a number of the body parts like the organs, systems and areas of the body are simultaneously affected by the diseases. The triggers would denote Neurological symptoms The central and periphery nervous system are impacted which include seizures, distorted mobility, brain malfunction and mental problems. Skeletal symptoms The bones and skeletal systems are affected. Gastrointestinal symptoms The stomach and gastrointestinal tract are impacted severely causing diarrhoea, nausea and reflux. Respiratory symptoms Breathing issues are caused, impacting the airways. Kidneys are impacted by the renal symptoms. The liver is impacted by the hepatitis symptoms. The cardiac symptoms signify troubling issues with the heart. The muscles are impacted by the muscular symptoms. The hormonal balances are disrupted in the body due to the hormonal symptoms. The results are disbalanced levels of thyroid, delayed or absent puberty. The vision problems denote poor or decaying eyesight. Problems with hearing or audibility Problems with bleeding

The CDGS are prevalent because of the flawed Glycosylation which is natural bodily process. This process uses hundreds of different enzymes to allow sugar molecules in the body to attach to certain proteins or lipids (fats). The human chromosomes are made of DNA. The DNA fragments are called genes that carry out the genetic commands. There are several thousand genes in every individual chromosome. An alteration or lapse in the genetic sequence is termed mutation. Specific chromosomes are inherited from the mother’s egg and the father’s sperm. The genes on the chromosomes bear the commands that signify the combined traits of both parents.

The diagnosis is determined by the main indicators, a thorough medical history and a clinical evaluation. Focusing (IEF) of serum transferring is the frequently used screening test. Additional tests such as Electrospray Ionisation-Mass Spectrometry (ESI-MS) are used for confirmation. Some forms of CDG may be diagnosed through enzyme assays. Final confirmation is done by molecular testing.

Treatment is symptomatic & supportive and requires a multidisciplinary team of specialists. Only three forms of CDG have specific therapies available. Patients with MPI-CDG are given oral mannose which is a life-saving treatment. Some people with SLC35C1-CDG are given fucose therapy – this can prevent recurrent infections but does not treat other symptoms seen in this form. Some individuals with PIGM-CDG are given butyrate which improves the PIGM gene action and so can assist in managing the seizures associated with this form. Supportive therapies include speech and language therapy, physiotherapy and occupational therapy. Dietary supplements are often given to help the child grow and gain weight. Antacids and thickening agents are treatments of reflux. Tube feeding may be recommended to assist with feeding with a tube that is either passed through the stomach wall (gastrostomy) or through the nose into the stomach (naso-gastric tube feeding). Any dietary changes should only be implemented upon the recommendation and consultation of a specialist dietitian. An ophthalmologist may give eye patches or glasses to help vision and in some cases may recommend eye surgery to correct strabismus, if present. Seizures may occur and are treated with anticonvulsants; in rare cases patients may have seizures that do not respond to this treatment. Surgery may be required to treat some skeletal malformations that cause problems. Later in life, skeletal problems may require some mobility aids and orthopaedic management. Bleeding problems do not often cause major problems but special care and attention should be drawn to it if surgery is required; in these circumstances fresh frozen plasma is used. Organs such as liver and heart will be regularly checked. In some CDG, certain medication(s) should be avoided; ask the advice of your specialist. It is important to attend follow-up appointments and attend check-ups with various specialists.