Diseases of glycosylation

Thiel C, Körner C. Therapies and therapeutic approaches in Congenital Disorders of Glycosylation. Glycoconj J. 2013 Jan;30(1):77–84. doi: 10.1007/s10719-012-9447-5. PMID: 22983739.; Hennet T. Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochimica et Biophysica Acta (BBA) - General Subjects. 2012 Sep;1820(9):1306–17. doi: 10.1016/j.bbagen.2012.02.001.; Goreta SS, Dabelic S, Dumic J. Insights into complexity of congenital disorders of glycosylation. Biochem Med (Zagreb). 2012;22(2):156–70. PMID: 22838182; PMCID: PMC4062342.; Jaeken J. Congenital disorders of glycosylation (CDG): it's (nearly) all in it! J Inherit Metab Dis. 2011 Aug;34(4):853–8. doi: 10.1007/s10545-011-9299-3. PMID: 21384229.; Jaeken J, Hennet T, Matthijs G, Freeze HH. CDG nomenclature: Time for a change! Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2009 Sep;1792(9):825–6. doi: 10.1016/j.bbadis.2009.08.005.; Freeze HH. Genetic defects in the human glycome. Nat Rev Genet. 2006 Jul;7(7):537–51. doi: 10.1038/nrg1894. PMID: 16755287.; Marquardt T, Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. European Journal of Pediatrics. 2003 Mar 15;162(6):359–79. doi: 10.1007/s00431-002-1136-0.; Grunewald S, Matthijs G, Jaeken J. Congenital disorders of glycosylation: a review. Pediatr Res. 2002 Nov;52(5):618–24. doi: 10.1203/00006450-200211000-00003. PMID: 12409504.; Stibler H, Jaeken J. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Archives of Disease in Childhood. 1990 Jan 01;65(1):107–11. doi: 10.1136/adc.65.1.107.; Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta. 1984 Dec 29;144(2-3):245–7. doi: 10.1016/0009-8981(84)90059-7. PMID: 6543331.

Metabolites

alpha-D-Galactose 1-phosphate

Formula: C6H13O9P (260.0297178)

CAS ID: 2255-14-3

beta-D-Galactose

Formula: C6H12O6 (180.0633852)

CAS ID: 7296-64-2

Galactose

Formula: C6H12O6 (180.0633852)

CAS ID: 26566-61-0

H+

Formula: H (1.0078246)

CAS ID: 12408-02-5

H2O

Formula: H2O (18.0105642)

CAS ID: 7732-18-5

Magnesium cation

Formula: Mg (23.98505)

CAS ID: 22537-22-0

Manganese(2+)

Formula: Mn (54.938046)

CAS ID: 7439-96-5

Sulfate

Formula: H2SO4 (97.9673812)

CAS ID: 7664-93-9

Beta-1,4-D-Mannosylchitobiosyldiphosphodolichol

Formula: C47H82N2O22P2 (1088.4834212)

CAS ID:

D-glucopyranuronate

Formula: C6H9O7 (193.0348264)

CAS ID: 148-00-5

NADPH(4-)

Formula: C21H26N7O17P3 (741.0598016)

CAS ID: 53-57-6

ATP(4-)

Formula: C10H12N5O13P3 (502.9644492)

CAS ID:

UDP-alpha-D-glucose(2-)

Formula: C15H22N2O17P2 (564.0393702)

CAS ID:

UDP-N-acetyl-D-galactosamine(2-)

Formula: C17H25N3O17P2 (605.0659180000001)

CAS ID:

NAD(1-)

Formula: C21H26N7O14P2 (662.1012936000001)

CAS ID: 53-84-9

isopentenyl diphosphate(3-)

Formula: C5H9O7P2 (242.9823524)

CAS ID:



Enzyme

EC Number name full name note
2.4.1.-
2.4.1.109 dolichyl-phosphate-mannose-protein mannosyltransferase dolichyl-phosphate-D-mannose:protein O-D-mannosyltransferase
2.4.1.122 N-acetylgalactosaminide beta-1,3-galactosyltransferase UDP-alpha-D-galactose:N-acetyl-alpha-D-galactosaminyl-R beta-1,3-galactosyltransferase (configuration-inverting)
2.4.1.135 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase UDP-alpha-D-glucuronate:[protein]-3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-serine D-glucuronosyltransferase (configuration-inverting)
2.4.1.141 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase UDP-N-acetyl-D-glucosamine:N-acetyl-D-glucosaminyl-diphosphodolichol N-acetyl-D-glucosaminyltransferase
2.4.1.22 lactose synthase UDP-galactose:D-glucose 4-beta-D-galactosyltransferase
2.4.1.222 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase UDP-N-acetyl-alpha-D-glucosamine:[protein with EGF-like domain]-3-O-(alpha-L-fucosyl)-(L-serine/L-threonine) 3-beta-N-acetyl-D-glucosaminyltransferase (configuration-inverting)
2.4.1.224 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase UDP-N-acetyl-D-glucosamine:beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
2.4.1.225 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase UDP-alpha-D-glucuronate:N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan 4-beta-glucuronosyltransferase
2.4.1.275 neolactotriaosylceramide beta-1,4-galactosyltransferase UDP-alpha-D-galactose:N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1beta4)-beta-D-glucosyl-(1<->1)-ceramide 4-beta-D-galactosyltransferase
2.4.1.38 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase UDP-galactose:N-acetyl-beta-D-glucosaminylglycopeptide 4-beta-galactosyltransferase
2.4.1.83 dolichyl-phosphate beta-D-mannosyltransferase GDP-mannose:dolichyl-phosphate beta-D-mannosyltransferase
2.4.1.90 N-acetyllactosamine synthase UDP-galactose:N-acetyl-D-glucosamine 4-beta-D-galactosyltransferase
2.5.1.87 ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] (2E,6E)-farnesyl-diphosphate:isopentenyl-diphosphate cistransferase (adding 10–55 isopentenyl units)
3.2.1.23 beta-galactosidase beta-D-galactoside galactohydrolase
3.2.1.52 beta-N-acetylhexosaminidase beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase
3.4.16.5 carboxypeptidase C
5.1.3.2 UDP-glucose 4-epimerase UDP-glucose 4-epimerase
5.1.3.7 UDP-N-acetylglucosamine 4-epimerase UDP-N-acetyl-D-glucosamine 4-epimerase


Proteins

Protein ID name full name