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Congenital disorder of glycosylation
A
congenital disorder of glycosylation
(previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare
inborn errors of metabolism
in which
glycosylation
of a variety of
tissue
proteins
and/or
lipids
is deficient or defective.
Congenital disorders
of glycosylation are sometimes known as CDG
syndromes
. They often cause serious, sometimes fatal, malfunction of several different
organ systems
(especially the
nervous system
,
muscles
, and
intestines
) in affected infants. The most common subtype is CDG-Ia (also referred to as PMM2-CDG) where the genetic defect leads to the loss of
phosphomannomutase
2, the enzyme responsible for the conversion of
mannose-6-phosphate
into
mannose-1-phosphate
.
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