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]

O-linked CDGs, in contrast, typically present as muscular dystrophies with additional phenotypes such as hypotonia, brain malformations, intellectual disability, cardiac involvement, or ocular dysfunction (Martin. 2005. PubMed ID: 16584074). [preventiongenetics.com]

Introduction Autosomal recessive cutis laxa (ARCL; MIM 219200, 219100) is a genetically heterogeneous condition presenting in the newborn with loose, redundant skin folds, decreased elasticity of the skin and generalized connective tissue involvement. [nature.com]

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

• Recurrent Infection

  Fucose therapy can be beneficial in treating recurrent infections associated with this form of CDG and improving health. However, fucose therapy does not help with other symptoms of this disorder. [rarediseases.org]

• Pleural Effusion

  Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. [rarediseases.oscar.ncsu.edu]

• Pneumonia

  He had recurrent pneumonia. At the age of 4 years, there are no apparent feeding problems. There is severe caries and a continuous improvement of the skin disease. [nature.com]

• Myopathy

  Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO [mseqdr.org]

  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]

  A myopathy was indicated by the elevated levels of creatine kinase and by electromyography. Further laboratory results showed a consistently prolonged activated partial thromboplastin time and elevated aspartate transaminase values. [jci.org]

  Article CAS PubMed Google Scholar Morava E, Willemsen MA, Wopereis S et al: High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. Eur J Ophthalmol 2006; 16: 190–194. [nature.com]

  The most frequently observed neurological symptoms in congenital disorders of glycosylation (CDG) are: epilepsy, intellectual disability, myopathies, neuropathies and stroke-like episodes. [ncbi.nlm.nih.gov]

• Hydrops Fetalis

  A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly [ebi.ac.uk]

  fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. [rareguru.com]

  Definition A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly [disease-ontology.org]

  Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. [rarediseases.oscar.ncsu.edu]

  Description ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops [mendelian.co]

• Cognitive Disorder

  The implications of disordered glycosylation in neural development may be relevant for the development and maintenance of normal cognitive functions. [ncbi.nlm.nih.gov]

• Pleural Effusion

  Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. [rarediseases.oscar.ncsu.edu]

At this time, treatment is available for MPI-CDG (oral mannose or liver transplantation) (Jaeken. 2017. PubMed ID: 28484880). [preventiongenetics.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]

Treatment with PB, VGB and VPA was unsuccessful [35]. [ncbi.nlm.nih.gov]

Prognosis is usually poor. [ebi.ac.uk]

Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. Visit the Orphanet disease page for more resources. [rareguru.com]

Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. [mendelian.co]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

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

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

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]

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]