Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

Journal of Pediatrics

Volumn 135, Issue 3, 1999, Pages 379-383

  De Lonlay, Pascole ^a,b,c,d,e,f   Cuer, Maryvonne ^a,b,c,d,e,f   Vuillaumier Barrot, Sandrine ^a,b,c,d,e,f   Beaune, Gaspard ^a,b,c,d,e,f   Castelnau, Pierre ^a,b,c,d,e,f   Kretz, Michel ^a,b,c,d,e,f   Durand, Geneviève ^a,b,c,d,e,f   Saudubray, Jean Marie ^a,b,c,d,e,f   Seta, Nathalie ^a,b,c,d,e,f  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b BICHAT HOSPITAL   (France)

^c HÔPITAL DEBROUSSE   (France)

^d Hopitaux Civils   (France)

^e UNIVERSITÉ PARIS SACLAY   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE PHOSPHATE ISOMERASE;

ARTICLE; BODY WEIGHT; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE ASSOCIATION; FEMALE; GLUCOSE BLOOD LEVEL; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERINSULINEMIA; HYPOGLYCEMIA; INFANT; PRIORITY JOURNAL; VOMITING;

EID: 0033510652     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(99)70139-3     Document Type: Article

References (19)

1. 1. Jaeken J, Carchon H, Stibler H. The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders? Glycobiology 1993;3:423-8.
2. 2. Jacken J, Matthijs G, Barone R, Carchon H. Carbohydrate deficient glycoprotein (CDGS) syndrome type I. J Med Genet 1997;34:73-6.
3. 3. Yamashita K, Ideo H, Okhura T, Fukushima K, Yuasa I, Ohno K, Takeshita K. Sugar chains of serum transferrin from patients with carbohydrate-deficient glycoprotein syndrome. J Biol Chem 1993;268:5783-9.
4. 4. Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficiency glycoprotein syndrome type I. FEBS Lett 1995; 377:318-20.
5. 5. Jaeken J, Artigas J, Fiumara A, De Koning TJ, Poll-The BT, De Rijk JF. Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inher Metab Dis 1997;20:447-9.
6. 6. Matthijs G, Schollen E, Veiga Da Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nature Genet 1997;16:88-92.
7. 7. Niehucs R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 1998;101: 1414-20.
8. 8. De Koning TJ, Dorland L, van Diggelen OP, Boonman AMC, de Jong GJ, van Noort WL, et al. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Com 1998;245:38-42.
9. 9. Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, et al. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet 1998;62:1535-9.
10. 10. Alton G, Kjaergaard S, Etchison JR, Skovby F, Freeze HH. Oral ingestion of mannose elevated blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I. Biochem Molec Med 1997;60:127-33.
11. 11. Mayatepek E, Schroder M, Kohlmller D, Bieger WP, Ntzenadel W. Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I. Acta Paediatr 1997;86:1138-40.
12. 12. Seta N, Barnier A, Hochedez F, Besnard MA, Durand G. Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome. Clin Chim Acta 1996;254:131-40.
13. 13. Proudfoot AEI, Turcatti G, Wells TNC, Payton MA, Smith DJ. Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase. Eur J Biochem 1994;219:415-23.
14. 14. Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, Kitzis A. Modifications of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res 1989;17: 3606-12.
15. 15. Etchison JR, Freeze HH. Enzymatic assay of D mannose in serum. Clin Chem 1997;43:533-8.
16. 16. Stibler H, Holzbach U, Tengborn L, Kristiansson B. Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I. Blood Coagul Fibrinolysis 1996;7:118-26.
17. 17. de la Fuente M, Penas P, Sols A. Mechanism of mannose toxicity. Biochem Biophys Res Commun 1986; 140:51-5.
18. 18. Marquardt T, Hasilik M, Nichues R, Herting M, Muntau A, Holzbach U, et al. Mannose therapy in carbohydrate-deficient glycoprotein syndrome type 1-first results of the German multicenter study. Amino Acids 1997;12:389.
19. 19. Freeze H, Niehues R, Hasilik M, Marquardt T, Etchinson J, Panneerselvam K, et al. Initial results of mannose therapy in N-glycosylation disorders. Glycobiology 1997;7:1020.