Medical condition
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. 
Diagnosis.
PMM2 deficiency is diagnosed through genetic sequencing. More than 115 mutations in the "PMM2" gene have been found to cause this disease.
Treatment.
Treatment with mannose powder 1 to 2 g / kg per day results in significant improvement in protein glycosylation after 1 year. Other treatments involve management of the symptoms that are apparent in each individual, including physical therapy to improve core strength and mobility, occupational therapy for coordination, speech therapy for talking and eating.
References.
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