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

Also Known As:

Carbohydrate-Deficient Glycoprotein Syndrome Type Ia; Carbohydrate-deficient glycoprotein syndrome type 1A; Congenital Disorder of Glycosylation Type Ia; Congenital Disorder of Glycosylation, Type Ia; Jaeken syndrome; PMM2 deficiency; Phosphomannomutase 2 deficiency; Pmm2-CDG

Enzymes and Coenzymes: 1
- Enzymes: 155591
  - Isomerases: 467
    - Intramolecular Transferases: 3
      - Phosphotransferases (Phosphomutases)
        Congenital disorder of glycosylation type 1A: 120
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 587
        Congenital disorder of glycosylation type 1A: 120
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Carbohydrate Metabolism
      - Congenital Disorders of Glycosylation: 587
        Congenital disorder of glycosylation type 1A: 120

Phil Cox Selected Research

Phil Cox Research Topics

Disease

Drug/Important Bio-Agent (IBA)