It is possible that the main title of the report PMM2-CDG is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- carbohydrate-deficient glycoprotein syndrome, type Ia
- congenital disorder of glycosylation type Ia
- CDGS Type Ia
- Jaeken syndrome
PMM2-CDG, formerly known as congenital disorder of glycosylation type 1a, is a rare multisystem disorder that involves a normal, but complex, chemical process known as glycosylation. Glycosylation is the process by which sugar chains (glycans) are created, altered and chemically attached to certain proteins or fats (lipids). When these sugar molecules are attached to proteins, they form glycoproteins. Glycoproteins have varied important functions within the body and are essential for the normal growth and function of numerous tissues and organs. PMM2-CDG can affect virtually any part of the body, although most cases usually have an important neurological component. PMM2-CDG is associated with a broad and highly variable range of symptoms and can vary in severity from mild cases to severe, disabling or life-threatening cases. Most cases are apparent in infancy. PMM2-CDG is caused by mutations of the phosphomannomutase-2 (PMM2) gene and is inherited as an autosomal recessive condition.
PMM2-CDG belongs to a group of disorders known as the congenital disorders of glycosylation (CDG). CDG were first reported in the medical literature in 1980 by Dr. Jaak Jaeken, et al. More than 50 different forms of CDG have been reported in the ensuing years. PMM2-CDG is the most common form. Several different names have been used to describe these disorders including carbohydrate-deficient glycoprotein syndromes. Recently, researchers have proposed a classification system that names each subtype by the official abbreviation of its defective gene followed by a dash and CDG. Congenital disorder of glycosylation type 1a is now known as PMM2-CDG. CDG are a rapidly growing disease family and information about these disorders is constantly changing.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
Vaincre Les Maladies Lysosomales
2 Ter Avenue
111 E 59th St
New York, NY 10022-1202
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
United Leukodystrophy Foundation
224 N. 2nd St.
DeKalb, IL 60115
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
CDG Family Network
PO Box 860847
Plano, TX 75074
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126