PMM2 deficiency
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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]
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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 |
PMM2 protein |
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