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]

Adult female patients present as a rule with hypergonadotropic hypogonadism (9, 10). [nature.com]

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

• Feeding Difficulties

  Feeding difficulties leading to failure to thrive are also common. Failure to thrive is defined as the failure to grow and gain weight as would be expected based upon age and gender. [rarediseases.org]

• Failure to Thrive

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

  Feeding difficulties leading to failure to thrive are also common. Failure to thrive is defined as the failure to grow and gain weight as would be expected based upon age and gender. [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]

  Strabismus and hypotonia were the most frequent initial signs, as has been previously reported [8], and hepato-gastro-intestinal (failure to thrive, diarrhoea, vomiting) were frequent. [ojrd.biomedcentral.com]

• Abnormal Eye Movement

  In infancy, PMM2-CDG presents with neurologic abnormalities typically shortly after birth, namely strabismus and abnormal eye movements, cerebellar hypoplasia, hypotonia, psychomotor retardation, ataxia, hypotonia, and hyporeflexia. [atm.amegroups.com]

• Myopathy

  For instance, patients with PGM1-CDG (a type 1 disorder of N-glycosylation) frequently have hypoglycemia, hormonal dysregulations, growth delay, seizures, cleft lip and/or palate, a uvula that is split in two (bifid uvula), myopathy and bleeding. [rarediseases.org]

  CDG-IId was described in a patient with moderate psychomotor retardation and macrocephaly as well as myopathy. [nature.com]

  […] evidence) GNE 3 reviews 1 green BIALLELIC, autosomal or pseudoautosomal Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nonaka myopathy [panelapp.genomicsengland.co.uk]

  Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Mol Genet Metab 2012;107:748-55. [Crossref] [PubMed] Brasil S, Pascoal C, Francisco R, et al. CDG Therapies: From Bench to Bedside. [atm.amegroups.com]

  Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy. Mol Genet Metab 2012;107:748-55. 10.1016/j.ymgme.2012.10.011 [PMC free article] [PubMed] [CrossRef] [Google Scholar] 90. [ncbi.nlm.nih.gov]

• Osteopenia

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

  Adults with PMM2-CDG may live until their 7th or 8th decades with stable cognitive delay, peripheral neuropathy, and progressive thoracic and spinal kyphoscoliosis with osteopenia or osteoporosis (34). [ncbi.nlm.nih.gov]

  As a rule there is osteopenia. A very common feature is cerebellar hypoplasia, which can usually be documented at or shortly after birth. [nature.com]

• Psychomotor Retardation

  CDG-IId was described in a patient with moderate psychomotor retardation and macrocephaly as well as myopathy. [nature.com]

  Article CAS PubMed Google Scholar Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, Eeckels R: Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased [ojrd.biomedcentral.com]

  In infancy, PMM2-CDG presents with neurologic abnormalities typically shortly after birth, namely strabismus and abnormal eye movements, cerebellar hypoplasia, hypotonia, psychomotor retardation, ataxia, hypotonia, and hyporeflexia. [atm.amegroups.com]

• Cerebellar Ataxia

  PMM2-CDG in adolescence and adulthood It has been reported repeatedly that cerebellar ataxia is not progressive in PMM2-CDG [13],[23], which we observed in our cohort. [ojrd.biomedcentral.com]

  Cerebellar ataxia is an increasingly recognized symptom along with multisystemic involvement (38-40). [atm.amegroups.com]

• Hyporeflexia

  In infancy, PMM2-CDG presents with neurologic abnormalities typically shortly after birth, namely strabismus and abnormal eye movements, cerebellar hypoplasia, hypotonia, psychomotor retardation, ataxia, hypotonia, and hyporeflexia. [atm.amegroups.com]

• Nystagmus

  Endocrine Dermatologic Musculoskeletal/other N-linked glycosylation PMM2-CDG CDG type Ia AR 212065 ID (except MPI), DD, seizures (50%), hypotonia, ataxia, dysmetria, dysarthria, peripheral neuropathy, cerebral and cerebellar atrophy, myasthenia Strabismus, nystagmus [ncbi.nlm.nih.gov]

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]

• Pericardial Effusion

  Fluid accumulation around the lungs or heart (pleural or pericardial effusions) has also been reported. [rarediseases.org]

  Infants may also have hepatic disease, nephrotic syndrome and renal cysts, pericardial effusion and hypertrophic cardiomyopathy, failure to thrive, and multi-organ failure resulting in death within the first year of life in up to 20% of affected individuals [ncbi.nlm.nih.gov]

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]

TREATMENT CDG-Ia. Unfortunately, an efficient treatment is still not available for the CDG-Ia patients. [nature.com]

One patient was treated with long-term anticoagulant therapy, another with antiplatelet therapy after a period of anticoagulant therapy and the third had a temporary anticoagulant treatment. [ojrd.biomedcentral.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]

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]