Phosphomannose isomerase deficiency as a cause of congenital hepatic fibrosis and protein-losing enteropathy: Editorial

Journal of Hepatology

Volumn 31, Issue 3, 1999, Pages 557-560

  De Koning, T J ^a   Dorland, L ^a   Van Berge Henegouwen, G P ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE PHOSPHATE ISOMERASE;

CLINICAL FEATURE; EDITORIAL; ENZYME DEFECT; ENZYME DEFICIENCY; HUMAN; LIVER BIOPSY; LIVER FIBROSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PROTEIN LOSING GASTROENTEROPATHY;

EID: 0032842563     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(99)80052-X     Document Type: Editorial

References (27)

1. R Niehues M Hasilik G Alton C Körner M Schiebe-Sukumar HG Koch Carbohydrate-deficient glycoprotein syndrome type Ib; phosphomannose isomerase deficiency and mannose therapy J Clin Invest 101 1998 1414 1420
2. TJ De Koning L Dorland OP van Diggelen AMC Boonman GJ de Jong WL van Noort A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency Biochem Biophys Res Commun 245 1998 38 42
3. J Jaeken G Matthijs J-M Saudubray C Dionisi-Vici E Bertini P de Lonlay Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation Am J Hum Genet 62 1998 1535 1539
4. PS Pedersen I Tygstrup Congenital hepatic fibrosis combined with protein-losing enteropathy and recurrent thrombosis Acta Paediatr Scand 69 1980 571 574
5. OP Van Diggelen JA Maat-Kievit JBC de Klerk AMC Boonman WL van Noort J Bouquet Two more Dutch cases of CDG syndrome Ib: phosphomannose isomerase deficiency J Inher Metab Dis 21 suppl 2 1998 97
6. P De Lonlay M Cuer S Barrot P Castelnau G Touati G Durand Hyperinsulinemic hypoglycemia as presenting symptom in phosphomannose isomerase deficiency: a new presentation of carbohydrate-deficient glycoprotein syndrome treatable by mannose J Inher Metab Dis 21 suppl 2 1998 96
7. J Jaeken M Vanderschueren-Lodeweyckx P Casaer L Snoeck L Corbeel E Eggermont Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome? Pediatr Res 14 1980 179
8. J Jaeken H Schachter H Carchon P De Cock B Coddeville G Spik Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyl-transferase II Arch Dis Child 71 1994 123 127
9. E Van Schaftingen J Jaeken Phosphomannomutase is a cause of carbohydrate-deficient glycoprotein syndrome type I FEBS Lett 377 1995 318 320
10. T Billette de Villemeur F Poggi-Travert J Laurent J Jaeken J-M Saudubray Le syndrome d'hypoglycosylation des protéines: un nouveau groupe de maladies héréditaires d'expression multisystèmique M Arthuis F Beaufils B Caille JP Dommerques JL Fontaine C Griscelli Journées Parisiennes de Pédiatrie 1995 Médecine-Sciences Flammarion Paris 119 124
11. A Varki Biologic roles of oligosaccharides: all of the theories are correct Glycobiology 3 1993 97 130
12. J Jaeken J Artigas R Barone A Fiumara TJ de Koning BT Poll-The Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectric focusing pattern of serum sialotransferrins J Inher Metab Dis 20 1997 447 449
13. H Stibler U Holzbach L Tengborn B Kristiansson Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I. Blood Coagul Fibrinolysis 7 1996 118 126
14. N Conradi R De Vos J Jaeken P Lundin B Kristiansson F Van Hoof Liver pathology in the carbohydrate-deficient glycoprotein syndrome Acta Paediatr Scand 375 suppl 1991 50 54
15. 2-PP-dolichyl glucosyl-transferase Proc Nat Acad Sci USA 95 1998 13200 13205
16. J Jaeken M Pirard M Adamowicz E Pronicka E Van Schaftingen Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance Pediatr Res 40 1996 764 766
17. K Panneerselvam HH Freeze Mannose enters mammalian cells using a specific transporter that is insensitive to glucose J Biol Chem 271 1996 9417 9421
18. E Ogier-Denis A Blais JJ Houri T Voisin G Trugnan P Codogno The emergence of a basolateral 1-deoxymannojirimycin-sensitive mannose carrier is a function of intestinal cell differentation. Evidence for a new inhibitory effect of 1-deoxymannojirimycin on facilitative mannose transport J Biol Chem 269 1994 4285 4290
19. WP Sweetnam CGW Sykes Congenital fibrosis of the liver as a familial defect Lancet i 1961 374
20. VJ Desmet What is congenital hepatic fibrosis? Histopathology 20 1992 465 477
21. VJ Desmet Congenital disease of intrahepatic bile ducts: variations on the theme “ductal plate malformation” Hepatology 16 1992 1069 1083
22. VJ Desmet Pathogenesis of ductal plate abnormalities Mayo Clin Proc 73 1998 80 89
23. VJ Desmet P van Eijken R Sciot Cytokeratins for probing cell lineage relationships in the developing liver Hepatology 12 1990 1249 1251
24. T Terada Y Nakanuma Profiles of expression of carbohydrate structures during intrahepatic bile duct development and maturation Hepatology 20 1994 388 397
25. T Terada Y Nakanuma Detection of apoptosis and expression of apoptosis related proteins during human intrahepatic bile duct development Am J Path 146 1995 67 74
26. CF Chou AL Smith MB Omary Characterization and dynamics of O-linked glycosylation of human cytokeratin 8 and 18 J Biol Chem 267 1992 3901 3906
27. M De la Fuente P Penas A Sols Mechanism of mannose toxicity Biochem Biophys Res Commun 140 1986 51 55