Global InformationPMM2 deficiency information
| PMM2 deficiency | |
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| Other names | Carbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia, Congenital Disorder of Glycosylation (CDG) Type Ia,Phosphomannomutase Deficiency[1],Jaeken Syndrome, PMM2-CDG , CDG1a |
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| PMM2 protein | |
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG.[2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders.[3] Only about 800 children and adults have been reported worldwide.[4]
- ^ Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (May 1997). "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)". Nature Genetics. 16 (1): 88–92. doi:10.1038/ng0597-88. PMID 9140401. S2CID 22959423.
- ^ "Congenital Disorders of Glycosylation (CDG)". Children's Hospital of Philadelphia. Retrieved 1 December 2023.
- ^ "Congenital Disorders of Glycosylation (CDG)". Children's Hospital of Philadelphia. Retrieved 1 December 2023.
- ^ "PMM2-CDG". Rare Diseases. National Organization for Rare Disorders (NORD). 6 August 2015 [Originally published 1996]. Retrieved 1 December 2023.