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. Table 5 Autistic spectrum disorder as a feature of CDG [5,14,20,23,76]. [ncbi.nlm.nih.gov]

[…] not present) Close to 100% when using the serum transferrin isoelectrofocusing test. [nature.com]

Cited by 5 articles Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. [pubmed.ncbi.nlm.nih.gov]

• Multiple Congenital Anomalies

  (cortical) PGAP2/Hyperphosphatasia with mental retardation syndrome 3 PIGG PIGN/Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGT/Multiple congenital anomalies-hypotonia-seizures syndrome 3 POMT2/Muscular dystrophy-dystroglycanopathy [ncbi.nlm.nih.gov]

  […] with brain and eye anomalies), type A, 14 OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM: [panelapp.genomicsengland.co.uk]

  Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet. 2011;48:383-389. http://www.ncbi.nlm.nih.gov/pubmed/21493957 Jaeken J. Congenital disorders of glycosylation. [rarediseases.org]

  Mutations in many genes within the GPI anchor biosynthetic pathway cause a variety of multiple congenital anomalies, intellectual disability, and epilepsy. [atm.amegroups.com]

• 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]

• Pathologist

  Pediatricians, neurologists, surgeons, cardiologists, speech pathologists, ophthalmologists, gastroenterologists and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment. [rarediseases.org]

• Hydrops Fetalis

  Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 1998;21:681-2. [Crossref] [PubMed] Jaeken J, Matthijs G, Saudubray JM, et al. [atm.amegroups.com]

  Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J. Inherit. Metab. Dis. 1998;21:681–682. doi: 10.1023/A:1005496920435. [PubMed] [CrossRef] [Google Scholar] 17. [ncbi.nlm.nih.gov]

• Seizure

  ESe covered with decreasing frequency: tonic seizures, bilateral tonic-clonic (both evolving to status epilepticus), myoclonic seizures, ESp, absence seizures, migrating focal seizures. [ncbi.nlm.nih.gov]

  For example, anti-seizure medications (anti-convulsants) may be used to treat seizures, thyroid hormone may be used to treat hypothyroidism and surgery may be used to treat certain skeletal malformations. [rarediseases.org]

  Sodium butyrate has been demonstrated to improve seizure control in CAD-CDG and PIGM-CDG (92). Ketogenic diet has also been shown to decrease seizure frequency in some cases of PIGA-CDG (93). [atm.amegroups.com]

  Seizures, scoliosis, and macrocephaly syndrome 616682 Exostoses, multiple, type 2 133701 Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Tags Green Green List (high evidence) FKRP 3 reviews 1 green [panelapp.genomicsengland.co.uk]

  Seizures were well-controlled with antiepileptic therapy, mostly with a single drug and with two drugs or more in two-thirds of the cases. [ojrd.biomedcentral.com]

• Global Developmental Delay

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

  In NGLY1-CDDG the most common presentation is global developmental delay, hyperkinetic movement disorder, peripheral neuropathy, alacrimia/hypolacrimia [103]. [ncbi.nlm.nih.gov]

• Neurologic Manifestation

  The phenotype encompasses a wide range of neurological and non-neurological manifestations comprising cerebellar atrophy and intellectual deficiency. [ojrd.biomedcentral.com]

  Although neurologic changes and cognitive delays are seen in the majority of affected individuals, there are certain cases and even types that do not have neurologic manifestations. [atm.amegroups.com]

• Convulsions

  For example, anti-seizure medications (anti-convulsants) may be used to treat seizures, thyroid hormone may be used to treat hypothyroidism and surgery may be used to treat certain skeletal malformations. [rarediseases.org]

  The semiology of ESe was as follows: generalized tonic-clonic seizures (48% of patients), generalized non-convulsive (37%), complex partial (20%), tonic spasms (20%), behavioral arrest (16%), ESp (12%), gelastic seizures (4%), atonic (4%), status epilepticus [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]

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]

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]. [ncbi.nlm.nih.gov]

It will also help patients and parents of affected children in the process of accepting the disease although no curative treatment is yet available. References 1. Assmann B, Hackler R, Peters V, et al. [nature.com]

Prognosis (please describe) The prognosis regarding quality of life is mainly determined by the nature and the degree of the brain and eye involvement. [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]

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

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. [ncbi.nlm.nih.gov]

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]

Moreover, its potential in preventing stroke like episodes (SLEs) and its long-term effects on kidney function was proposed to be addressed in future studies. 7. [ncbi.nlm.nih.gov]