Congenital disorders of glycosylation (CDG) are a group of inborn errors of metabolism presenting with heterogeneous multisystemic clinical manifestations. To date, more than 60 different types of CDG have been reported. [ingentaconnect.com]

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]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.ro]

Furthermore, our sibling pair highlights the intrafamilial variability, the natural clinical course of ALG3-CDG (CDG-Id) and the benefit of reassessing patients with undiagnosed and complex syndromes, particularly when they present with neurological deterioration [ncbi.nlm.nih.gov]

At present, the variable presentation and severity of the different defects along the ER N-glycosylation pathway is unexplained at the functional level. [jmg.bmj.com]

• Bulbous Nose

  Show allHide all Abnormality of head or neck Bulbous nose Depressed nasal bridge Epicanthus High palate Microcephaly Wide nasal bridge Abnormality of limbs Adducted thumb Clinodactyly Clinodactyly of the 5th toe Clubfoot Joint contracture of the hand [ncbi.nlm.nih.gov]

  Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 Showing of 39 | Last updated: 12/1/2018 Making a diagnosis for a genetic [rarediseases.info.nih.gov]

  Dysmorphic features were variable, but included large ears, bulbous nose, and long fingers. Both had axial hypotonia and hyperreflexia. The boy had pectus excavatum with hypoplastic nipples. [omim.org]

• Psychomotor Retardation

  CDG type 1 diseases result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency (Sun et al. 2005). [reactome.org]

  Symptoms Psychomotor retardation Hypotonia Seizures Optic atrophy Small head Reduced responsiveness Adducted thumbs Cognitive impairment Muscular hypotonia Treatment No treatment is available for most of these disorders. [checkorphan.org]

  They share similar clinical features with previously reported patients including facial dysmorphism, severe psychomotor retardation, microcephaly, seizures, and gastrointestinal symptoms. [ncbi.nlm.nih.gov]

  Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. [genecards.org]

• Hyperreflexia

  Clinodactyly Clinodactyly of the 5th toe Flexion contracture Hypertonia Joint contracture of the hand Long fingers Microcephaly Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar atrophy Cerebral atrophy Global developmental delay Hyperreflexia [ncbi.nlm.nih.gov]

  Diarrhea Watery stool 0002014 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Food intolerance 0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia [rarediseases.info.nih.gov]

  Two cases of CDG-IIj have been described where one patient suffered from milder symptoms including dysmorphic features, such as down-sloping frontal area and thick hair, mild neurologic signs, including axial hypotonia, mild peripheral hypertonia, and hyperreflexia [themedicalbiochemistrypage.org]

  Both had axial hypotonia and hyperreflexia. The boy had pectus excavatum with hypoplastic nipples. Although both patients were severely affected, the girl had more severe digestive issues, while her brother had more neurologic impairment. [omim.org]

Further diagnostic workup by Tf IEF analysis confirmed abnormal serum %CDT results. [clinchem.aaccjnls.org]

• Hypsarrhythmia

  5th toe Flexion contracture Hypertonia Joint contracture of the hand Long fingers Microcephaly Muscular hypotonia of the trunk Abnormality of the nervous system Cerebellar atrophy Cerebral atrophy Global developmental delay Hyperreflexia Hypertonia Hypsarrhythmia [ncbi.nlm.nih.gov]

  […] eye folds [ more ] 0000286 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Food intolerance 0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Hypsarrhythmia [rarediseases.info.nih.gov]

  The single patient thus far identified with this form of CDG exhibited severe psychomotor retardation, spasms, hypsarrhythmia, and irregular nystagmus (involuntary eye movements). Examination of the brain by MRI showed significant dysmyelination. [themedicalbiochemistrypage.org]

  The best-characterized GPI biosynthesis defect, X-linked PIGA deficiency, presents with infantile spasms with hypsarrhythmia, hypotonia, multiple brain abnormalities, and facial dysmorphisms. [atm.amegroups.com]

Symptoms Psychomotor retardation Hypotonia Seizures Optic atrophy Small head Reduced responsiveness Adducted thumbs Cognitive impairment Muscular hypotonia Treatment No treatment is available for most of these disorders. [checkorphan.org]

A polysaccharide immunomodulator with therapeutic implications, carbohydrate vaccines, new findings emphasizing the influence of carbohydrate decoration on the regulation of inflammatory response and new therapeutic approaches in the treatment of acute [books.google.ro]

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

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

Generally, the prognosis will vary depending on the severity of symptoms and their response to mannose treatment. [counsyl.com]

We report two affected siblings presenting prenatally with skeletal abnormalities associated with dysmorphic features, cerebellar vermis hypoplasia, corpus callosum agenesis, hepatic fibrosis and poor prognosis. [ingentaconnect.com]

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

“So they don’t have a prognosis on how long the life expectancy is," Omler said. "They don’t know if it’s going to get worse, they don’t know if it’s going to get any better. So there’s a lot they don’t know. And we understand that." [kpbs.org]

Given the prognosis regarding her neurological and musculo-skeletal condition, she has managed to improve her balance in certain positions and she can better hold a glass of water, she can now stand up with minimal assistance. [blog.mirarehab.com]

Implications of this discovery challenged the prevailing paradigm that protein hypoglycosylation is the only etiology of CDGs. Monoglucosylated Man9GlcNAc2 is a key structural motif in calnexin/calreticulin binding. [epostersonline.com]

Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [atm.amegroups.com]

Johnson, Lambro A. et al. (2013): BMI but not stage or etiology of nonalcoholic liver disease affects the diagnostic utility of carbohydrate-deficient transferrin. Alcoholism, clinical and experimental research 37 (10), S. 1771–1778. [med4you.at]

Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. Clin Chem 2000 ; 46 : 584 -586. ↵ van Pelt J, Azimi H. [clinchem.aaccjnls.org]

In addition, several CDGs of so far unknown etiology (CDG-x) have been recognized. [biochemia-medica.com]

[…] type 2 Transaldolase deficiency Synonym(s): - CDGIt Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare genetic disease - Rare hepatic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Relevant External Links for PMM2 Genetic Association Database (GAD) PMM2 Human Genome Epidemiology (HuGE) Navigator PMM2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PMM2 No data available for Genatlas for PMM2 Gene Mutations in PMM2 [genecards.org]

The epidemiology of CMD is not well known. Data from an epidemiological study in North-East Italy, considering the period 1979-1993, reported an incidence rate of 4.65 × 10(–5) and a prevalence rate of 6.8 × 10(–6)3. [scielo.br]

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]

PIGS-associated early onset epileptic developmental encephalopathy. 61 Efthymiou S...Houlden H 33410539 2021 37 Deciphering the premature mortality in PIGA-CDG - An untold story. 61 Bayat A...Moller RS 33508693 2021 38 N-Glycan Modification in Covid-19 Pathophysiology [malacards.org]

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]

However, more work is needed to pinpoint the exact function of MAN1B1 in glycoprotein quality control, and to understand the pathophysiology of its deficiency. [journals.plos.org]

Altered terminal glycosylation and the pathophysiology of CF lung disease. J Cyst Fibros 2004 ; 3 Suppl 2 : 95 -96. ↵ Albahri Z, Marklova E, Vanicek H, Minxova L, Dedek P, Skalova S. [clinchem.aaccjnls.org]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.ro]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.it]

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]

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]