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2012 ; 22
(2
): 156-70
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Insights into complexity of congenital disorders of glycosylation
#MMPMID22838182
Goreta SS
; Dabelic S
; Dumic J
Biochem Med (Zagreb)
2012[]; 22
(2
): 156-70
PMID22838182
show ga
Biochemical and biological properties of glycoconjugates are strongly determined
by the specific structure of its glycan parts. Glycosylation, the covalent
attachment of sugars to proteins and lipids, is very complex and
highly-coordinated process involving > 250 gene products. Deficiency of
glycosylation enzymes or transporters results in impaired glycosylation, and
consequently pathological modulation of many physiological processes. Inborn
defects of glycosylation enzymes, caused by the specific mutations, lead to the
development of rare, but severe diseases - congenital disorders of glycosylation
(CDGs). Up today, there are more than 45 known CDGs. Their clinical
manifestations range from very mild to extremely severe (even lethal) and
unfortunately, only three of them can be effectively treated nowadays. CDG
symptoms highly vary, though some are common for several CDG types but also for
other unrelated diseases, especially neurological ones, leaving the possibility
that many CDGs cases are under- or misdiagnosed. Glycan analysis of serum
transferrin (by isoelectric focusing or more sophisticated methods, such as HPLC
(high-performance liquid chromatography) or MALDI (matrix-assisted laser
desorption/ionization)) or serum N-glycans (by MS), enzyme activity assays and
DNA sequence analysis are the most frequently used methods for CDG screening and
identification, since no specific tests are available yet. In this review we
summarize the current knowledge on the clinical, biochemical and genetic
characteristic of distinct CDGs, as well as existing diagnostic and therapeutic
procedures, aiming to contribute to the awareness on the existence of these rare
diseases and encourage the efforts to elucidate its genetic background, improve
diagnostics and develop new strategies for their treatment.
|*Glycosylation
[MESH]
|Biochemistry/methods
[MESH]
|Chromatography, High Pressure Liquid/methods
[MESH]
|Clinical Laboratory Techniques
[MESH]
|Congenital Disorders of Glycosylation/*diagnosis/*metabolism/therapy
[MESH]
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