PMM2 deficiency

PMM2 deficiency
Other namesCarbohydrate-deficient Glycoprotein Syndrome (CDGS) Type Ia, Congenital Disorder of Glycosylation (CDG) Type Ia,Phosphomannomutase Deficiency,Jaeken Syndrome, PMM2-CDG , CDG1a
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. PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. Only about 800 children and adults have been reported worldwide.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.