Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption

Clinica Chimica Acta

Volumn 431, Issue , 2014, Pages 15-18

  Helander, Anders ^a   Jaeken, Jaak ^b   Matthijs, Gert ^b   Eggertsen, Gösta ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Alcohol biomarkers; Carbohydrate deficient transferrin (CDT); Congenital disorder of glycosylation (CDG); Human transferrin; Phosphomannose isomerase (MPI)

Indexed keywords

BIOLOGICAL MARKER; CARBOHYDRATE-DEFICIENT TRANSFERRIN; DNA; MANNOSE PHOSPHATE ISOMERASE; TRANSFERRIN;

ADULT; ALCOHOLISM; ANALOGS AND DERIVATIVES; BLOOD; CONGENITAL DISORDERS OF GLYCOSYLATION; DEFICIENCY; FEMALE; FOLLOW UP; GENETICS; HUMAN; LABORATORY DIAGNOSIS; METABOLISM; MUTATION;

ADULT; ALCOHOLISM; BIOLOGICAL MARKERS; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA; FALSE POSITIVE REACTIONS; FEMALE; FOLLOW-UP STUDIES; HUMANS; MANNOSE-6-PHOSPHATE ISOMERASE; MUTATION; TRANSFERRIN;

EID: 84893941480     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.01.018     Document Type: Article

References (32)

1. Hermansson U., Helander A., Brandt L., Huss A., Rönnberg S. Screening and brief intervention for risky alcohol consumption in the workplace: results of a 1-year randomized controlled study. Alcohol Alcohol 2010, 45:252-257.
2. Helander A., Wielders J.P., Te Stroet R., Bergström J.P. Comparison of HPLC and capillary electrophoresis for confirmatory testing of the alcohol misuse marker carbohydrate-deficient transferrin. Clin Chem 2005, 51:1528-1531.
3. Kenan N., Husand S., Helander A. Importance of HPLC confirmation of problematic carbohydrate-deficient transferrin (CDT) results from a multicapillary electrophoresis routine method. Clin Chim Acta 2010, 411:1945-1950.
4. Helander A., von Wachenfeldt J., Hiltunen A., Beck O., Liljeberg P., Borg S. Comparison of urinary 5-hydroxytryptophol, breath ethanol, and self-report for detection of recent alcohol use during outpatient treatment: a study on methadone patients. Drug Alcohol Depend 1999, 56:33-38.
5. Saunders J.B., Aasland O.G., Babor T.F., de la Fuente J.R., Grant M. Development of the Alcohol Use Disorders Identification Test (AUDIT): WHO Collaborative Project on Early Detection of Persons with Harmful Alcohol Consumption-II. Addiction 1993, 88:791-804.
6. Jeppsson J.-O., Arndt T., Schellenberg F., et al. Toward standardization of carbohydrate-deficient transferrin (CDT) measurements: I. Analyte definition and proposal of a candidate reference method. Clin Chem Lab Med 2007, 45:558-562.
7. Helander A., Husa A., Jeppsson J.-O. Improved HPLC method for carbohydrate-deficient transferrin in serum. Clin Chem 2003, 49:1881-1890.
8. Helander A., Wielders J.P., Jeppsson J.-O., et al. Toward standardization of carbohydrate-deficient transferrin (CDT) measurements: II. Performance of a laboratory network running the HPLC candidate reference measurement procedure and evaluation of a candidate reference material. Clin Chem Lab Med 2010, 48:1585-1592.
9. Jeppsson J.-O., Kristensson H., Fimiani C. Carbohydrate-deficient transferrin quantified by HPLC to determine heavy consumption of alcohol. Clin Chem 1993, 39:2115-2120.
10. Zheng Y., Beck O., Helander A. Method development for routine liquid chromatography-mass spectrometry measurement of the alcohol biomarker phosphatidylethanol (PEth) in blood. Clin Chim Acta 2011, 412:1428-1435.
11. Helander A., Peter O., Zheng Y. Monitoring of the alcohol biomarkers PEth, CDT and EtG/EtS in an outpatient treatment setting. Alcohol Alcohol 2012, 47:552-557.
12. Helander A., Bergström J., Freeze H.H. Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms. Clin Chem 2004, 50:954-958.
13. Lefeber D.J., Morava E., Jaeken J. How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis 2011, 34:849-852.
14. Jaeken J. Congenital disorders of glycosylation. Ann N Y Acad Sci 2010, 1214:190-198.
15. Jaeken J. Congenital disorders of glycosylation (CDG): it's (nearly) all in it!. J Inherit Metab Dis 2011, 34:853-858.
16. Theodore M., Morava E. Congenital disorders of glycosylation: sweet news. Curr Opin Pediatr 2011, 23:581-587.
17. Bjursell M.K., Blom H.J., Cayuela J.A., et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet 2011, 89:507-515.
18. Van Schaftingen E., Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995, 377:318-320.
19. Niehues R., Hasilik M., Alton G., et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 1998, 101:1414-1420.
20. Schollen E., Dorland L., de Koning T.J., et al. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). Hum Mutat 2000, 16:247-252.
21. Westphal V., Kjaergaard S., Davis J.A., Peterson S.M., Skovby F., Freeze H.H. Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. Mol Genet Metab 2001, 73:77-85.
22. Pedersen P.S., Tygstrup I. Congenital hepatic fibrosis combined with protein-losing enteropathy and recurrent thrombosis. Acta Paediatr Scand 1980, 69:571-574.
23. Oruc S., Saruc M., Koyuncu F.M., Ozdemir E. Changes in the plasma activities of protein C and protein S during pregnancy. Aust N Z J Obstet Gynaecol 2000, 40:448-450.
24. Bergström J.P., Helander A. HPLC evaluation of clinical and pharmacological factors reported to cause false-positive carbohydrate-deficient transferrin (CDT) levels. Clin Chim Acta 2008, 389:164-166.
25. Helander A., Eriksson G., Stibler H., Jeppsson J.-O. Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse. Clin Chem 2001, 47:1225-1233.
26. Jaeken J., Pirard M., Adamowicz M., Pronicka E., van Schaftingen E. Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. Pediatr Res 1996, 40:764-766.
27. Sturiale L., Barone R., Fiumara A., et al. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 2005, 15:1268-1276.
28. Quintana E., Sturiale L., Montero R., et al. Secondary disorders of glycosylation in inborn errors of fructose metabolism. J Inherit Metab Dis 2009, 32(Suppl. 1):S273-S278.
29. Kenan N., Larsson A., Axelsson O., Helander A. Changes in transferrin glycosylation during pregnancy may lead to false-positive carbohydrate-deficient transferrin (CDT) results in testing for riskful alcohol consumption. Clin Chim Acta 2011, 412:129-133.
30. Delanghe J.R., De Buyzere M.L. Carbohydrate deficient transferrin and forensic medicine. Clin Chim Acta 2009, 406:1-7.
31. de Lonlay P., Seta N. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim Biophys Acta 2009, 1792:841-843.
32. Vuillaumier-Barrot S., Isidor B., Dupre T., Le Bizec C., David A., Seta N. Expanding the spectrum of PMM2-CDG phenotype. JIMD Rep 2012, 5:123-125.