Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.

Abstract:

:Congenital disorder of glycosylation-Ia (CDG-Ia, also known as PMM2-CDG) is caused by mutations in the gene that encodes phosphomannomutase 2 (PMM2, EC 5.4.2.8) leading to a multisystemic disease with severe psychomotor and mental retardation. In a hypomorphic Pmm2 mouse model, we were able to overcome embryonic lethality by feeding mannose to pregnant dams. The results underline the essential role of glycosylation in embryonic development and may open new treatment options for this disease.

journal_name

Nat Med

journal_title

Nature medicine

authors

Schneider A,Thiel C,Rindermann J,DeRossi C,Popovici D,Hoffmann GF,Gröne HJ,Körner C

doi

10.1038/nm.2548

subject

Has Abstract

pub_date

2011-12-11 00:00:00

pages

71-3

issue

1

eissn

1078-8956

issn

1546-170X

pii

nm.2548

journal_volume

18

pub_type

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