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.
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.
Source: Wikipedia "PMM2 deficiency" · CC BY-SA 4.0
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