What causes GMPPA-congenital disorder of glycosylation?

GMPPA-congenital disorder of glycosylation is caused by mutations in the GMPPA gene. The GMPPA gene is involved in the production of N-linked oligosaccharides. N-linked glycosylation is the process of attaching a sugar (glycan) to a protein, which results in a structure known as a glycoprotein. The glycosylation process is important for the proper functioning of proteins.

Last updated on 05-01-20

How might GMPPA-congenital disorder of glycosylation be treated?

There are only few cases described in the literature and there is no established treatment. Alacrima (lack of tears) may be treated with topical lubricants (such as artificial tears or ointments), and, if needed, with a procedure that drains tears from the eyes (punctal occlusion). The symptoms of alacrima typically improve with punctal occlusion.There are only a few cases described and there is not an established treatment. Achalasia is typically managed with surgical correction. The symptoms in patients with achalasia may be improved partially with pneumatic dilatation (also called balloon dilation). If the procedure does not improve the symptoms, other surgeries may be recommended.

Last updated on 05-01-20

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Koehler K & cols. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction Am J Hum Genet. October 3, 2013; 93(4). 727-34. Reference Link

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