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]

Now, some CDG types have been recognized as presenting with ASD [76], with most frequent presented in Table 5. [mdpi.com]

The other signs, often present with varying degrees of severity are: lipo-cutaneous anomalies (orange peel), olivopontocerebellar atrophy, skeletal abnormalities, inverted nipples, coagulation disorders, and cytolysis and hepatic fibrosis. [tellmegen.com]

• Developmental Disorder

  University Medical Center, Nijmegen Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual [panelapp.genomicsengland.co.uk]

• Jaundice

  The two sibling neonates recently described with a multi-systemic disorder had perinatal asphyxia, mild dysmorphic features, hypotonia, prolonged jaundice and hepatosplenomegaly with evidence of liver disease. [nature.com]

• Strabismus

  Ophthalmological involvement 25/28 patients had strabismus at some point during their lifetime and which persisted to adulthood for 24 patients. At least four patients underwent one or two strabismus surgeries, with poor outcome. [ojrd.biomedcentral.com]

  Presentation is highly variable, although strabismus can be seen in more than 70% of affected patients (21,23,33-35). Inverted nipples and abnormal fat pads are seen in about 25–50% of patients (36). [ncbi.nlm.nih.gov]

  Figure 1 Ichthyosis, hypotonia, and strabismus in a patient with SRD5A3-CDG. Courtesy of NIH, Lynne Wolfe, CRNP, Donna Krasnewich, MD, PhD. [atm.amegroups.com]

  Additional common symptoms include abnormal fat distribution, defects in blood clotting that can cause abnormal bleeding or clotting (coagulation defects), gastrointestinal symptoms such as vomiting and diarrhea, eye abnormalities such as crossed eyes (strabismus [rarediseases.org]

  Often patients can be diagnosed in the neonatal or early infantile period on the basis of typical clinical features (inverted nipples and fat pads) in addition to strabismus, muscular hypotonia, failure to thrive, and elevated transaminases (5, 6). [nature.com]

• Areflexia

  The disease should, however, be included in the differential diagnosis, especially in the evaluation of patients with seizures, ataxia, areflexia, developmental delay (ALG6-CDG) or be evaluated in individuals diagnosed with PMM2-CDG [113]. 14. [mdpi.com]

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]

Acta Paediatr 91: 1065–72 CrossRef PubMed CAS Google Scholar Mention K, Lacaille F, Valayannopoulos V, et al. (2008) Development of liver disease despite mannose treatment in two patients with CDG-Ib. [link.springer.com]

Treatment with PB, VGB and VPA was unsuccessful [35]. [mdpi.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]

Prognosis depends on the underlying etiology, which is diverse and includes infections, perinatal events and genetic disorders. [mdpi.com]

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

Prognosis depends on the underlying etiology, which is diverse and includes infections, perinatal events and genetic disorders. [mdpi.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]

As to symptomatic treatment, we have obtained efficient prevention of stroke-like events by using 0.5 mg/kg per day acetylsalicylic acid (C. Van Geet and J. Jaeken, in preparation). [nature.com]

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