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

Results The most common presenting symptoms of CDG type 1a are neurological. [digitalcommons.hsc.unt.edu]

Congenital cardiac defects, ichthyosis, and hypertrichosis may be present. The skin over the dorsum of the hands and feet often appears dark. Ataxia is sometimes present and MRIs may reveal vermal and cerebellar hypoplasia. [disorders.eyes.arizona.edu]

Case 4 presented with renal and hepatic involvement at 3 months, and case 5 with developmental delay at 7 months. [ajnr.org]

All CDG-II patients presented coagulopathy. [omicsonline.org]

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]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

Treatment options are being explored to facilitate glycosylation with either a membrane-permeable mannose-1-phosphate treatment or enzyme replacement therapy. [digitalcommons.hsc.unt.edu]

It will be interesting to see how the findings from Lee et al. will lead to better prognoses and treatments for PGM1 deficiency. In the meantime, Tegtmeyer et al. 5 have already tested out a treatment for the disease. [sulab.org]

Phone: 1-800-533-1710 Fax: 1-507-284-4542 E-mail: [email protected] Treatment: There is no treatment or cure for the disorder so treatments will focus on the complications and/or manifestations. [lymphedemapeople.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Prognosis for Congenital Disorders of Glycosylation Some children with Congenital Disorders of Glycosylation have serious, life-threatening medical problems during infancy. [day2dayparenting.com]

What is the prognosis for a person with Congenital Disorder of Glycosylation Type Ia? Twenty percent of people with CDG-Ia die within the first year of life, often due to infection, liver problems, or heart disease. [counsyl.com]

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

Chardot C, Carton M, Spire-Bendelac N, et al: Prognosis of biliary atresia in the era of liver transplantation: French national study from 1986 to 1996. Hepatology 1999;30:606–611. [karger.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

In recent decades, there has been accelerating understanding of etiologies and pathogenic mechanisms. As our understanding of vasculitis has evolved, so to have the names we use to identify distinct categories. [em-consulte.com]

The differential diagnosis of abnormal transferrin patterns also includes liver disease not related to CDG including galactosemia, hereditary fructose intolerance in acute crisis, and liver disease of unexplained etiology. [mayomedicallaboratories.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]

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

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]

Chardot C, Carton M, Spire-Bendelac N, et al: Epidemiology of biliary atresia in France: a national study. J Hepatol 1999;31:1006–1013. [karger.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, are a group of over [mayomedicallaboratories.com]

Respiratory complications in the postanesthesia care unit: a review of pathophysiological mechanisms. Can J Respir Ther. 2013;49(4):21–9. Google Scholar Copyright [jaclinicalreports.springeropen.com]

Respiratory complications in the postanesthesia care unit: a review of pathophysiological mechanisms. Can J Respir Ther. 2013;49(4):21–9. [link.springer.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]

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.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]

Its substitution for trytptofan will prevent binding to the substrate. Patient 7, who has this novel mutation and the known p.T226S, shows enzyme activity close to zero. [omicsonline.org]

As to symptomatic treatment, we have obtained efficient prevention of stroke-like events by using 0.5 mg/kg per day acetylsalicylic acid (C. Van Geet and J. Jaeken, in preparation). [nature.com]