The phenotypic spectrum is broad, both within and between types, with reported clinical presentations ranging from isolated developmental delay to multisystem manifestations [11,12]. Most patients present with neurologic findings. [medilib.ir]

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]

Case presentation The patient was a 17-month-old boy who weighed 6.5 kg and was 71 cm tall. He presented for strabismus surgery. [jaclinicalreports.springeropen.com]

• Pleural Effusion

  effusion), pericardial effusion, oedema, hepatomegaly, cholestatic jaundice, portal hypertension, Budd–Chiari syndrome, nephrotic syndrome, spontaneous haemorrhage and venous thrombosis. [nature.com]

• Failure to Thrive

  Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential. [rareguru.com]

  Infantile presentation includes developmental delay, failure to thrive, hepatopathy, hypotonia, hypoglycemia, protein-losing enteropathy, immunologic findings, and skin, eye, and skeletal findings. Most infants do not require hospitalization. [medilib.ir]

  Additionally, these individuals have severe failure to thrive after birth. [themedicalbiochemistrypage.org]

  Constitutionally, patients commonly have failure to thrive due to feeding and GI abnormalities and global developmental delay. [atm.amegroups.com]

• Dry, Scaly Skin

  Other frequent signs and symptoms include recurrent seizures; developmental delay; poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). [encyclopedia.pub]

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]

• Pleural Effusion

  effusion), pericardial effusion, oedema, hepatomegaly, cholestatic jaundice, portal hypertension, Budd–Chiari syndrome, nephrotic syndrome, spontaneous haemorrhage and venous thrombosis. [nature.com]

All diagnostic endeavors are followed by the quest for a reliable treatment. The isolated success of CDG-Ib treatment will be described with the hope that this may expand to other type I CDG disorders. [go.gale.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]

Specific treatments — Specific treatments are available for the following CDGs: ●MPI-CDG is treated with oral D-mannose at a dose of 1 gram/kg/day divided into four to six doses [21]. [medilib.ir]

The various types of CDG often have different symptoms and a different prognosis. Even individuals with the same type of CDG may not have the same symptoms and prognosis. [rareguru.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]

[…] microcysts with follow-up as indicated ●Ophthalmologic examination for evaluation of lens, retina, ocular mobility, and intraocular pressure ●Clinical genetics evaluation to discuss the hereditary component of CDGs and updates learned about the disorder PROGNOSIS [medilib.ir]

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

In addition, several CDGs of so far unknown etiology (CDG-x) have been recognized. [biochemia-medica.com]

EPIDEMIOLOGY — The prevalence and incidence of CDGs as a group have not been established [2]. [medilib.ir]

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]

The pathophysiology results from depressed synthesis or remodeling of oligosaccharide moieties of glycoproteins. The ultimate result is the formation of abnormal glycoproteins affecting their structure and metabolic functions. [go.gale.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]

Respiratory complications in the postanesthesia care unit: a review of pathophysiological mechanisms. Can J Respir Ther. 2013;49(4):21–9. Google Scholar Download references Acknowledgements Nothing. [jaclinicalreports.springeropen.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]

The MPDU1 gene was identified on the basis of the fact that it could rescue defects in Chinese hamster ovary (CHO) cells that prevented the synthesis and utilization of Dol-P-Man. [themedicalbiochemistrypage.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]

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