Congenital disorder of glycosylation type 1A

A genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of ASPARAGINE (N)-linked glycans or OLIGOSACCHARIDES on GLYCOPROTEINS. Affected individuals exhibit a range of growth, neuromuscular, eye, liver, immunologic, and gastrointestinal abnormalities; 20% die in the first year of life due to infections, HEPATIC INSUFFICIENCY or CARDIOMYOPATHY. Mutations have been identified in the PMM2 gene for type Ia. OMIM: 212065

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Networked: 113 relevant articles (2 outcomes, 7 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Jaeken, Jaak: 16 articles (02/2022 - 04/2011)
2.	Morava, Eva: 16 articles (01/2022 - 01/2012)
3.	Serrano, Mercedes: 11 articles (01/2021 - 10/2015)
4.	Pérez, Belén: 9 articles (10/2022 - 10/2015)
5.	Witters, Peter: 6 articles (12/2021 - 01/2019)
6.	Barone, Rita: 6 articles (08/2021 - 08/2011)
7.	Cuadras, Daniel: 6 articles (01/2019 - 10/2015)
8.	Pérez-Dueñas, Belén: 6 articles (12/2018 - 10/2015)
9.	De Lonlay, Pascale: 5 articles (09/2022 - 12/2014)
10.	Cassiman, David: 5 articles (12/2021 - 03/2014)

Related Diseases

1.	Ataxia (Dyssynergia) 10/26/2015 - "We aim to assess the validity of the International Cooperative Ataxia Rating Scale (ICARS) in children and adolescents with genetically confirmed PMM2-CDG deficiency. " 08/01/2021 - "Twenty-six PMM2-CDG patients (12 males; mean age 13 ± 11.1 years) underwent a standardized assessment to measure ADL, ataxia (brief ataxia rating scale, BARS) and phenotype severity (Nijmegen CDG rating scale, NCRS). " 10/11/2022 - "Here, a novel genetic variation causing PMM2-CDG is reported.  CASE PRESENTATION: We report the case of a French child, from healthy and unrelated parents, presenting congenital ataxia with hypotonia, hyperlaxity, inverted nipples, as well as altered coagulation parameters and liver function. " 12/01/2021 - "In the child with PMM2-CDG on epalrestat treatment, ataxia scores improved together with significant growth improvement. " 02/22/2018 - "CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. "
2.	Hemorrhage 01/01/2023 - "Several PMM2-CDG patients had an increased bleeding tendency. " 01/01/2023 - "Given the lack of reliable data on the prevalence of bleeding abnormalities and thrombotic episodes in PMM2-CDG patients, and whether coagulation abnormalities change over time, we prospectively collected and reviewed natural history data. " 11/01/2014 - "However, only 2 cases of intracerebral bleeding in patients with PMM2-CDG have been described so far. " 01/01/2023 - "Most PMM2-CDG patients display chronic coagulation abnormalities without significant improvement, associated with a frequency of 16% clinical bleeding abnormalities, and 10% thrombotic episodes in patients with severe antithrombin deficiency."
3.	Congenital Disorders of Glycosylation 01/01/2023 - "We studied fifty individuals enrolled in the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) natural history study with molecularly confirmed diagnosis of PMM2-CDG. " 01/01/2022 - "Twenty-five patients with diagnosis of PMM2-CDG were enrolled as part of the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) natural history study. " 01/01/2023 - "PMM2-CDG is the most common defect among the congenital disorders of glycosylation. " 01/01/2023 - "PMM2-CDG is the most prevalent type of congenital disorders of glycosylation (CDG). " 01/01/2022 - "The structural cerebellar involvement that we document for the first time resembles the neuropathology reported in N-linked congenital disorders of glycosylation (CDG) such as PMM2-CDG, suggesting defects in multiple glycosylation pathways in this condition."
4.	Atrophy 01/01/2017 - "Our study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. " 08/01/2021 - "Brainstem involvement should be regarded among functional outcome predictors in patients with cerebellar atrophy caused by PMM2-CDG." 01/01/2021 - "PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark. " 01/01/2017 - "Statistical analysis was used to compare MRI measurements [midsagittal vermis relative diameter (MVRD) and volume] of children with PMM2-CDG and sex- and age-matched controls, and to determine the rate of progression of cerebellar atrophy at different ages. " 12/11/2014 - "Additionally, our findings add weight to the view that PMM2-CDG may be diagnosed in teenage/adult patients with cerebellar atrophy, even in the absence of intellectual deficiency or non-neurological involvement."
5.	Stroke (Strokes) 03/01/2007 - "In an effort to shed light on the mechanism of hemiparetic stroke-like events experienced by patients with congenital disorder of glycosylation type Ia, we evaluated 3 children with this disorder by brain imaging studies and continuous electroencephalogram monitoring during such events. " 03/01/2009 - "Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia." 03/01/2007 - "Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia." 03/01/2007 - "Epileptic phenomena can complicate the stroke-like events of patients with congenital disorder of glycosylation type Ia, and the cause of the hemiparesis may indeed be an active epileptic inhibitory process. " 02/01/2009 - "Increased brain lactate during stroke-like episode in a patient with congenital disorder of glycosylation type Ia."

Related Drugs and Biologics

1.	Antithrombins
2.	epalrestat
3.	phosphomannomutase
4.	Glycoproteins (Glycoprotein)
5.	Retinaldehyde (Retinal)
6.	Glycoconjugates
7.	Enzymes
8.	Antithrombin III
9.	Congenital disorder of glycosylation type 1A
10.	voltage-dependent calcium channel (P-Q type)

Related Therapies and Procedures

1.	Therapeutics
2.	Colonic Pouches (S Pouch)
3.	Elective Surgical Procedures
4.	Liver Transplantation
5.	Activities of Daily Living (ADL)