SKELETAL ABNORMALITIES Kyphoscoliosis was present in 48% of the patients above age 3. Pectus carinatum or excavatum was a constant finding after age 2. [adc.bmj.com]

Affected individuals may also present with eye, skin, and cardiac disease, as well as facial dysmorphisms. [atm.amegroups.com]

Developmental delays Imbalance Muscle weakness Nerve damage Vision issues Gastrointestinal problems Poor growth Liver disease Bone disease Heart disease Hormone problems Low blood sugar levels Bleeding Clotting risk CDG is a hereditary disorder and presents [mayoclinic.org]

Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Mol Genet Metab. 2013;110:342–4. [ncbi.nlm.nih.gov]

At present, he is unable to speak but can communicate his moods by uttering distinct sounds. Regular reflexes are present at the lower extremities. [jci.org]

• Poor Growth

  Depending on the specific type of CDG, common signs and symptoms include: Developmental delays Imbalance Muscle weakness Nerve damage Vision issues Gastrointestinal problems Poor growth Liver disease Bone disease Heart disease Hormone problems Low blood [mayoclinic.org]

  Symptoms of CDG in infancy and childhood may include: low muscle tone or floppiness (hypotonia) poor growth, failure to thrive developmental delays liver disease (hepatopathy) with elevated liver enzymes abnormal bleeding or blood clotting misaligned [chop.edu]

• Unable to Stand

  At 7 years of age, he could sit without support, and at 10 years he could do so for up to 1 hour, but he was unable to stand or walk without support (Figure 1). [jci.org]

The treatment for CDG-Ib is supplementation with mannose. With this treatment, individuals can have a normal life. This treatment must continue throughout life. [thinkgenetic.com]

Most will need a team of medical specialists to monitor their health over time and adjust needed treatments. [chop.edu]

ALT and AST were elevated before treatment, with a rapid decrease (3 weeks) after introduction of treatment. (Fig. 3a). [ojrd.biomedcentral.com]

Most CDG types do not have specific treatment or cures available. However, many of the health concerns in CDG are treatable. Current treatment for CDG patients involves screening for and treatment of health concerns. [cdgcare.org]

Treatment for glycosylation defects is mainly supportive, although targeted therapies are available for MPI-CDG, SLC35C1-CDG, PIGM-CDG, and PGM1-CDG. Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [atm.amegroups.com]

What is the prognosis for a person with Congenital Disorder of Glycosylation Type Ia? Twenty percent of people with CDG-Ia die within the first year of life, often due to infection, liver problems, or heart disease. [myriad.com]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [atm.amegroups.com]

Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [atm.amegroups.com]

Epidemiology The incidence and prevalence of all types of CDG in aggregate have not been well established, although patients have been reported worldwide from almost every ethnic background and both sexes are equally affected. [atm.amegroups.com]

Although the pathophysiology of multitude symptoms remains to be elucidated, the relationship between certain glycosylation pathways and specific clinical symptoms has been clarified. [atm.amegroups.com]

Health concerns can be decreased through preventative medicine with appropriate nutrition and scheduled immunizations. Doctors and scientists are working to find and create more specific treatments for CDG. CDG CARE supports these research efforts. [cdgcare.org]

In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of the active enzyme and prevent the development and progression of the disease. [rarediseases.org]

Truncated N-glycans affect protein folding in the ER of CHO-derived mutant cell lines without preventing calnexin binding. Glycobiology 2000. 10:77-87. Marquardt, T, et al. Correction of leukocyte adhesion deficiency type II with oral fucose. [jci.org]

In MPI-CDG and TMEM165-CDG, mannose and galactose supplementation, respectively, do not always fully correct or prevent liver damage [13, 26, 27], and our observations match this expectation. [ojrd.biomedcentral.com]

For example, N-acetylgalactosaminyltransferase 3 (GALNT3) O-glycosylates the phosphaturic hormone, FGF23, preventing proteolytic cleavage and allowing its intact secretion. [atm.amegroups.com]