Summary
A 32 year-old asymptomatic male came to our attention with a 21-year history, documented elsewhere, of puzzling increases in his serum transaminase level. At first, very low serum ceruloplasmin level suggested Wilson disease. Two liver biopsies showed mild portal inflammation, steatosis and mild fibrosis. Further investigation revealed low levels of the glycoproteins AT III and clotting factor XI, leading to a diagnosis of congenital disorder of glycosylation (CDG) type II. Further studies as to the cause of this ‘apparently new’ CDG, are ongoing. On the basis of our data and a literature review, we suggest that subjects with asymptomatic hypertransaminasaemia be screened for CDG.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- CDG:
-
congenital disorder of glycosylation
- CPK:
-
creatine phosphokinase
- ER:
-
endoplasmic reticulum
- IEF:
-
isoelectrofocusing
- INR:
-
International Normalized Ratio
- Tf:
-
transferrin
References
Callewaert N, Van Vlieberghe, H, Van Hecke A, Laroy W, Delanghe J, Contreras R (2004) Noninvasive diagnosis of liver cirrhosis using DNA sequencer-based total serum protein glycomics. Nat Med 10: 429–434. doi:10.1038/nm1006.
Cassiman D, Jaeken J (2008) NASH may be trash. Gut 57(2): 141–144. doi:10.1136/gut.2007.123240.
Damen G, de Klerk H, Huijmans J, et al (2004) Gastrointestinal and other clinical manifestation in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic. J Pediatr Gastroenterol Nutr 38: 282–287. doi:10.1097/00005176-200403000-00010.
de Koning TJ, Dorland L, van Diggelen OP, et al (1998) A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun 245: 38-42.
de Lonlay P, Seta N, Barrot S, et al (2001) A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 38: 14–19. doi:10.1136/jmg.38.1.14.
Freeze HH (2007) Congenital disorders of glycosylation: CDG-I, CDG-II, and beyond. Curr Mol Med 7(4): 389–396. doi:10.2174/156652407780831548.
Jaeken J (2004) Congenital disorders of glycosylation (CDG): update and new developments. J Inherit Metab Dis 27: 423–426. doi:10.1023/B:BOLI.0000031221.44647.9e.
Jaeken J, Carchon H (2004) Congenital disorders of glycosylation: a booming chapter of pediatrics. Curr Opin Pediatr 16: 434–439. doi:10.1097/01.mop.0000133636.56790.4a.
Jaeken J, Matthijs G (2007) Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet 8: 261–278. doi:10.1146/annurev.genom.8.080706.092327.
Jaeken J, Matthijs G, Saudubray J-M, et al (1998) Phosphomannose Isomerase Deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet 62: 1535–1539.
Mandato C, Brive L, Miura Y, et al (2006) Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation. Pediatr Res 59: 293–298. doi:10.1203/01.pdr.0000196378.30165.26.
Niehues R, Hasilik M, Alton G, et al (1998) Carbohydrate-deficient glycoprotein syndrome type 1b. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 101: 1414–1420.
Schwarzenberg SJ (1999) Congenital hepatic fibrosis-is it really a matter of ‘a spoonful of sugar?’ Hepatology 30: 582–583. doi:10.1002/hep.510300239.
Vodopiutz J, Bodamer OA (2008) Congenital disorders of glycosylation—a challenging group of IEMs. J Inherit Metab Dis 31: 267–269. doi:10.1007/s10545-008-0849-2.
Zeevaert R, Foulquier F, Jaeken J, Matthijs G (2008) Deficiencies in subunits of the conserved oligomeric Golgi (COG) complex define a novel group of congenital disorders of glycosylation. Mol Genet Metab 93(1): 15–21. doi:10.1016/j.ymgme.2007.08.118.
Acknowledgements
The authors thank Dr M. Spada for his valuable contribution to discussions about metabolic diseases and Barbara Wade for her linguistic advice.
Author information
Authors and Affiliations
Corresponding author
Additional information
Communicating editor: Verena Peters
Competing interests: None declared
References to electronic databases: Congenital disorder of glycosylation, type I/IIx: OMIM 212067.
Rights and permissions
About this article
Cite this article
Calvo, P.L., Pagliardini, S., Baldi, M. et al. Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx. J Inherit Metab Dis 31 (Suppl 2), 437–440 (2008). https://doi.org/10.1007/s10545-008-1004-9
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10545-008-1004-9