Osteopenia or osteoporosis was present in all patients of our cohort, sometimes with severe clinical implications. [ojrd.biomedcentral.com]

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

Additional therapies for CDG depend upon the specific abnormalities present and generally follow standard guidelines. [rarediseases.org]

• Developmental Delay

  Constitutionally, patients commonly have failure to thrive due to feeding and GI abnormalities and global developmental delay. [ncbi.nlm.nih.gov]

  Symptoms include developmental delay and seizures among other issues. Providing uridine supplements (triacetyl uridine) shows remarkable improvement within days of starting therapy and prolonged treatment gives further improvements. [rarediseases.org]

  In addition, thirteen of these patients were reexamined at the time of the study to obtain detailed information. 27 of the 29 patients had a typical PMM2-CDG phenotype, with infantile hypotonia, strabismus, developmental delay followed by intellectual [ojrd.biomedcentral.com]

  They had generalized hypotonia from infancy, moderate to severe neuromotor developmental delay and failure to thrive. [nature.com]

• Swelling

  Another factor that can contribute to failure to thrive is excessive loss of proteins from the gastrointestinal tract (protein-losing enteropathy) which can also cause swelling due to fluid retention (edema). [rarediseases.org]

• Vomiting

  Many children with a CDG develop persistent vomiting and dysfunction of oral motor skills, which involve the muscles of the face and throat. [rarediseases.org]

  Visceral signs (vomiting, diarrhoea, liver failure) were present in 8/20 patients and were always associated with truncal hypotonia and strabismus during the first year. [ojrd.biomedcentral.com]

  Recurrent symptoms in patients with CDG include failure to thrive, global developmental delay, vomiting, stroke-like episodes, and skeletal abnormalities. [atm.amegroups.com]

  Soon in infancy, cyclic episodes of vomiting and/or diarrhea with threatening dehydration were frequent and often urgent reasons for hospitalization. [nature.com]

• Aniridia

  RN0050) LISSENCEFALIA ISOLATA O SINDROMICA (RN0060) HARTSFIELD-BIXLER-DEMYER, SINDROME DI (RN0060) OLOPROSENCEFALIA ISOLATA O SINDROMICA (RN0070) FOIX-CHAVANY-MARIE, SINDROME DI (RN0090) AXENFELD-RIEGER, ANOMALIA DI (RN0100) PETERS, ANOMALIA DI (RN0110) ANIRIDIA [malattierare.toscana.it]

Conclusion We confirm that CDG screening should be a part of the routine workup of adolescent/adult patients with sporadic or presumably autosomal recessive cerebellar ataxia, even in the absence of other suggestive signs. [ojrd.biomedcentral.com]

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]

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of most forms of CDG is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Hence, the free Man treatment bypasses (29) the metabolic block caused by the deficient MPI. (Fig. 2). [nature.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]

This has been mentioned in other samples of adult PMM2-CDG patients [16],[23] and implies the importance of specific monitoring to prevent fractures. [ojrd.biomedcentral.com]

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]

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

Hence, early specific diagnosis of any one entity is crucial for genetic counseling and elective preventive measures. [nature.com]