[…] of the same type may present with appreciable clinical differences; it has recently been suggested that in CDG-Ia the type of mutation in the PMM gene may influence the severity of the phenotype of the disease.4 Our patient did not present with any of [fn.bmj.com]

In most cases, neuromuscular disease is present. The purpose of this study was to characterize the cardiological aspects in this disorder. [cambridge.org]

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]

Some individuals may present with heart and liver problems and feeding difficulties. A screening test is available for SRD5A3-CDG but a definitive diagnosis is achieved through genetic testing. [curesrd5a3.com]

• Underweight

  The proband, patient I-1, from family I was born slightly underweight at 2.7 kg and was mildly jaundiced after birth. A developmental and dysmorphology assessment by a clinical geneticist found only mild developmental delay. [jamanetwork.com]

  Correlation between height and weight remained harmonious, without obesity or underweight. No patients had thyroid dysfunction (n = 0/13); 2/6 patients with cortisol assessment had a low cortisol rate at 8 am. [ojrd.biomedcentral.com]

• Inflammation

  The recurrent infections are attributed to undetectable sialylated Lewisx on the surface of neutrophils which prevents them from adhering to the endothelium at sites of inflammation. [themedicalbiochemistrypage.org]

• Food Intolerance

  Severe and intractable diarrhoea of infancy is relatively uncommon in industrialised countries and constitutes a heterogeneous group of diseases including post-enteritis syndrome, food intolerance, familial microvillous atrophy, autoimmune enteropathy [fn.bmj.com]

• Hepatosplenomegaly

  At 4 months of age, hepatosplenomegaly appeared, associated with slightly increased transaminases (serum glutamate oxaloacetate transaminase 72 IU/l; normal < 40 IU/l; serum glutamate pyruvate transaminase 97 IU/l; normal < 40 IU/l) and evidence of hepatic [fn.bmj.com]

  The other case involved a child with profound developmental delay, hypotonia, nystagmus, hepatosplenomegaly, and poor growth ultimately resulting in seizures, liver cirrhosis, and recurrent infections that were ultimately fatal around age 2 years. [themedicalbiochemistrypage.org]

• Thrombosis

  Linssen et al. recommend yearly assessment of anti-thrombin III, protein C and protein S, as well as avoidance of elective surgery and immobility to prevent thrombosis. [ojrd.biomedcentral.com]

  Type Ib CDG is associated with coagulation abnormalities (thrombosis or bleeding resulting from deficiency in protein C, protein S, or antithrombin III), but without any psychomotor retardation.5 ,6 Gastrointestinal symptoms characteristic of the type [fn.bmj.com]

  As presented in Table 2, congenital and developmental CNS abnormalities can be divided into cortical malformations, midline brain structures and volume anomalies, myelination disorders and venous sinus thrombosis. [mdpi.com]

  Patients may be at increased risk of thrombosis due to decreased serum coagulation factors including factors IV, IX, and XI, antithrombin III, protein C, and protein S (29). [atm.amegroups.com]

• Microstomia

  His dysmorphy was characterised by retrognathia, microstomia with thin lips, small nose with anteversed nose tip, almond eyes, and bilateral clinodactily of the fifth finger. His lymphocyte karyotype was normal. [fn.bmj.com]

• Suggestibility

  There was no biochemical feature suggestive of osmotic diarrhoea as the stool pH ⩾ 6 and stool osmolarity ranged from 295 to 310 mOsmol/l. [fn.bmj.com]

  Our findings suggest that the onset of retinal degeneration is likely to occur in childhood in at least a proportion of cases. Ocular imaging and FAF suggest early dysfunction of the retinal pigment epithelium. [jamanetwork.com]

  Our study suggests that routine ophthalmological examinations continue to be useful in adult PMM2-CDG patients. [ojrd.biomedcentral.com]

  Doctors with experience in diagnosing the various forms of CDG suggest that CDG be considered as a possible diagnosis whenever a person has unexplained symptoms affecting multiple body systems or when a single health problem cannot be otherwise explained [chop.edu]

  Patients’ observation allowed for the suggestion of the first line treatment of ESp in CDG, which is ACTH or prednisolone. [mdpi.com]

• Thin Lips

  His dysmorphy was characterised by retrognathia, microstomia with thin lips, small nose with anteversed nose tip, almond eyes, and bilateral clinodactily of the fifth finger. His lymphocyte karyotype was normal. [fn.bmj.com]

• Generalized Tonic-Clonic Seizure

  partial secondarily generalized tonic-clonic seizures (1/7) and generalized tonic-clonic seizures (1/7) [64]. [mdpi.com]

• Generalized Seizure

  partial secondarily generalized tonic-clonic seizures (1/7) and generalized tonic-clonic seizures (1/7) [64]. [mdpi.com]

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]

Most will need a team of medical specialists to monitor their health over time and adjust needed treatments. [chop.edu]

Oral mannose treatment had no effect, except to intensify the diarrhoea. As analysis of the patient's cultured fibroblasts showed normal PMM and PMI activities, the subtype of this CDG remains to be defined (CDG-x). [fn.bmj.com]

There are currently no approved treatments for SRD5A3-CDG but gene therapy and drug repurposing are currently being explored in pre-clinical studies. Current treatment focuses on managing specific symptoms and preventing complications. [curesrd5a3.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]

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. [mdpi.com]

The diagnosis of CDGs should be suspected in cases with neurological signs and symptoms of unknown etiology, or in any patient with multisystemic disease even in the absence of neurological features. [clinicaltrials.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. [mdpi.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]

Current treatment focuses on managing specific symptoms and preventing complications. [curesrd5a3.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]

(Trp19Ter) variant prevents normal glycosylation of rhodopsin in the retina and subsequently impairs its normal incorporation and/or function in the rod outer segments, thereby leading to defective phototransduction and loss of vision before the eventual [jamanetwork.com]