Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 447-449

  Jaeken, J ^a,m   Artigas, J ^b   Barone, R ^c   Fiumara, A ^c   De Koning, T J ^d   Poll The, B T ^d   De Rijk Van Andel, J F ^e   Hoffmann, G F ^f   Assmann, B ^f   Mayatepek, E ^g   Pineda, M ^h   Vilaseca, M A ^h   Saudubray, J M ⁱ   Schluter B ^j   Wevers, R ^k   Van Schaftingen, E ^l  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b Parc Taulí Hospitals ^*  (Spain)

^c UNIVERSITY OF CATANIA   (Italy)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e Ignatius Hospital   (Netherlands)

^f University Children's Hospital   (Germany)

^g UNIVERSITY OF HEIDELBERG   (Germany)

^h Sant Joan de Déu Nursing s School University   (Spain)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j Vestische Kinderklinik   (Germany)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^m UNIVERSITY HOSPITALS LEUVEN   (Belgium)

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Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; MUTASE; PHOSPHOMANNOMUTASE; TRANSFERRIN; UNCLASSIFIED DRUG;

CLINICAL ARTICLE; CONFERENCE PAPER; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DISEASE CLASSIFICATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; HUMAN; ISOELECTRIC FOCUSING; LEUKOCYTE; LYMPHOBLAST; MALE; MEASUREMENT; PROTEIN GLYCOSYLATION;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; FEMALE; FIBROBLASTS; HUMANS; ISOELECTRIC FOCUSING; LEUKOCYTES; LYMPHOCYTES; MALE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 8544228332     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005331523477     Document Type: Conference Paper

References (14)

1. Charlwood J, Mian N, Johnson A, Clayton P, Keir G, Winchester B (1996) Carbohydrate deficient glycoprotein syndrome type 5? J Inher Metab Dis 19 (supplement 1): 92.
2. Clayton PT, Winchester BG, Keir G (1992) Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. J Inher Metab Dis 15: 857-861.
3. de Bont ESJM, van Spronsen FJ, Kimpen JLL, Stolte-Dijkstra I, Smit GPA (1994) Pasgeborenen met fatty pads die onvoldoende groeien en braken: het syndroom van Jaeken? Tijdschr Kindergeneeskd 62: 33-36.
4. Eyskens F, Ceuterick C, Martin JJ, Janssens G, Jaeken J (1994) Carbohydrate-deficient glycoprotein syndrome with previously unreported features. Acta Paediatr 83: 892-896.
5. Jaeken J, Besley G, Buist N, et al (1996) Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome type I. J Inher Metab Dis 19 (supplement 1): 6.
6. Jaeken J, Matthijs G, Barone R, Carchon H (1997) Carbohydrate-deficient glycoprotein (CDG) syndrome type I. J Med Genet, 34: 73-76.
7. Ogier de Baulny H, Poggi-Travert F, Besnard M, Saudubray JM (1996) Déficit de glycosylation des protéines: présentation clinique. Arch Pédiatr 3 (supplement 1): 158S-160S.
8. Ohno K, Yuasa I, Akaboshi S, et al (1992) The carbohydrate-deficient glycoprotein syndrome in three Japanese children. Brain Dev 14: 30-35.
9. Pavone L, Fiumara A, Barone R, et al (1996) Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J Neurol, 243: 700-705.
10. Pineda M, Pavia C, Vilaseca MA, et al (1996) Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome. Arch Dis Child 74: 242-243.
11. Schlüter B, Bürk G, Jaeken J, Aksu F, Andler W (1994) Manifestation des CDG-syndroms Typ I im jungen Säuglingsalter. Monats Kinderheilkd 142: 755.
12. Skladal D, Sperl W, Henry H, Bachmann C (1996) Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome. J Inher Metab Dis 19: 251-252.
13. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377: 318-320.
14. van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, Van Wijk JAE (1996) Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. J Inher Metab Dis 19: 787-791.