At present, patient 1 presents a severe phenotype and receives anti-epileptic medication, weekly physiotherapy, and assisted therapy, as well. [ncbi.nlm.nih.gov]

"Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia". J. Clin. Endocrinol. Metab. 90 (7): 4371–5. doi:10.1210/jc.2005-0250. [wikidoc.org]

"Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia". J. Clin. Endocrinol. Metab. 90 (7): 4371–5. DOI:10.1210/jc.2005-0250. [dictionnaire.sensagent.leparisien.fr]

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]

Some researchers break down the infantile multisystem stage into two distinct clinical presentations. [rarediseases.org]

• Failure to Thrive

  Failure to thrive Weight faltering, Postnatal failure to thrive, Undergrowth, Poor weight gain [more] Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [rarediseases.oscar.ncsu.edu]

  Common manifestations include ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features (e.g., inverted nipples and subcutaneous fat pads; and strabismus. [wikidoc.org]

  […] to thrive ++ + Diarrhea/vomiting − ++ Hypoalbuminemia − ++ Cardiomyopathy − − Cystic kidney disease − nd Hypotonia Axial Axial Muscle weakness, CK levels + CK: normal ++ CK: nd Coagulation anomalies: prothrombin (PT) and Kaolin partial thromboplastin [ncbi.nlm.nih.gov]

  Throughout their first year of life, affected infants may demonstrate little interest in nursing or bottle-feeding, have repeated episodes of diarrhea, vomit frequently, and/or fail to gain weight or grow at the expected rate (failure to thrive). [rarediseases.org]

  The majority of N-linked CDGs present in infancy, and symptoms may include failure to thrive, developmental delay, liver dysfunction, seizures, hypotonia, hypoglycemia, protein-losing enteropathy, eye dysfunction (such as strabismus or retinitis pigmentosa [preventiongenetics.com]

Treatment No treatment is available for most of these disorders. [wikidoc.org]

IEF of serum Tf after neuraminidase treatment showed only one band excluding a Tf protein variant. The abnormal Tf-IEF pattern was confirmed by HPLC and MALDI-TOF MS in patient 1. [ncbi.nlm.nih.gov]

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

The life-threatening HI phenotype is characterized by massively thickened skin with impaired skin barrier function, infection and water loss, requiring intensive care treatment (19, 21). [medicaljournals.se]

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

Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br J Dermatol 2009; 161: 884–889. [medicaljournals.se]

In addition, many infants and children with PMM2-CDG periodically exhibit low levels of certain substances in the blood that help the blood clot (coagulation factors, such as factor XI) or prevent abnormal blood clotting (coagulation inhibitors, such [rarediseases.org]