Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

European Journal of Paediatric Neurology

Volumn 13, Issue 5, 2009, Pages 444-451

  Perez Duenas B ^a   Garcia Cazorla A ^a   Pineda, M ^a   Poo, P ^a   Campistol, J ^a   Cusi V ^a   Schollen, E ^d   Matthijs, G ^d   Grunewald, S ^c   Briones, P ^b   Perez Cerda C ^a   Artuch, R ^a   Vilaseca, M A ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

CDG Ia; Cerebellar atrophy; Coagulopathy; Congenital disorders of glycosylation; Hydrops foetalis; Olivopontocerebellar atrophy

Indexed keywords

PHOSPHOMANNOMUTASE;

ADOLESCENT; ARTICLE; BRAIN HEMORRHAGE; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONTROLLED STUDY; DIGESTIVE SYSTEM FUNCTION DISORDER; ENZYME ANALYSIS; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; MALE; MORBIDITY; MOTOR DYSFUNCTION; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGING; BRAIN; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY; MAGNETIC RESONANCE IMAGING; MALE; NERVOUS SYSTEM DISEASES; SEIZURES; SPAIN; TOMOGRAPHY, X-RAY COMPUTED; TRANSFERRIN; YOUNG ADULT;

EID: 68349117151     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2008.09.002     Document Type: Article

References (38)

1. Marquardt T., and Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur J Pediatr 162 (2003) 359-379
2. Vilaseca M.A., Artuch R., and Briones P. Congenital disorders of glycosylation: state of the art and Spanish experience. Med Clin 122 (2004) 707-716
3. Jaeken J., Artigas J., Barone R., et al. Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inher Metab Dis 20 (1997) 447-449
4. Jaeken J., and Carchon H. What's new in congenital disorders of glycosylation?. Eur J Paediatr Neurol 4 (2000) 163-167
5. Grünewald S., Matthijs G., and Jaeken J. Congenital disorders of glycosylation: a review. Pediatr Res 52 (2002) 618-624
6. Leonard J., Grunewald S., and Clayton P. Diversity of congenital disorders of glycosylation. Lancet 357 (2001) 1382-1383
7. Erlandson A., Bjursell C., Stibler H., et al. Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations. Hum Genet 108 (2001) 359-367
8. Westphal V., Peterson S., Patterson M., et al. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. Genet Med 3 (2001) 393-398
9. Mader I., Döbler-Neumann M., Küker W., Stibler H., and Krägeloh-Mann I. Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant. Child's Nerv Syst 18 (2002) 77-80
10. De Lonlay P., Seta N., Barrot S., et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 38 (2001) 14-19
11. Grünewald S., Schollen E., van Schaftingen E., Jaeken J., and Matthijs G. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia. Am J Hum Genet 68 (2001) 347-354
12. Coman D., McGill J., MacDonald R., Morris D., et al. Congenital disorder of glycosylation type Ia: three siblings with a mild neurological phenotype. J Clin Neurosci 14 (2007) 668-672
13. Stibler H., Blennow G., Kristiansson B., Lindehammer H., and Hagberg B. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. J Neurol Neurosug Psychiatry 57 (1994) 552-556
14. Krasnewich D., O'Brien K., and Sparks S. Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Am J Med Genet C Semin Med Genet 145C (2007) 302-306
15. Pancho C., Garcia-Cazorla A., Varea V., et al. Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment. J Pediatr Gastroenterol Nutr 40 (2005) 230-232
16. Pineda M., Pavia C., Vilaseca M.A., et al. Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome. Arch Dis Child 74 (1996) 242-243
17. Briones P., Vilaseca M.A., García-Silva M.T., et al. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. Eur J Paediatr Neurol 5 (2001) 127-131
18. Matthijs G., Schollen E., Van Schaftingen E., Cassiman J.J., and Jaeken J. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type Ia. Am J Hum Genet 62 (1998) 542-550
19. Briones P., Vilaseca M.A., Schollen E., et al. Biochemical and molecular studies in 26 Spanish patients with congenital disorders of glycosylation type Ia. J Inher Metab Dis 25 (2002) 635-646
20. Foulquier F., Vasile E., Schollen E., et al. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci USA 103 (2006) 3764-3769
21. De Koning T.J., Toet M., Dorland L., et al. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J Inher Metab Dis 21 (1998) 681-682
22. Noelle V., Knuepfer M., Pulzer F., et al. Unusual presentation of congenital disorder of glycosylation type Ia: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema. Eur J Pediatr 164 (2005) 223-226
23. Edwards M., McKenzie F., O'Callaghan S., et al. Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops. Prenat Diagn 26 (2006) 985-988
24. McKenzie F.A., Fietz M., Fletcher J., et al. A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: early fetal loss with hydrops fetalis, and infant death with hypoproteinemia. Am J Med Genet A 143 (2007) 2029-2034
25. Wurm D., Löffler G., Lindinger A., and Gortner L. Congenital disorders of glycosylation type Ia as a cause of mirror syndrome. J Perinatol 27 (2007) 802-804
26. Van de Kamp J.M., Lefeber D.J., Ruijter G.J., et al. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet 44 (2007) 277-280
27. Aronica E., Van Kempen M.W., Van der Heide M., et al. Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol 109 (2005) 433-442
28. Jaeken J., Hagberg B., and Strömme P. Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 375 (1991) 6-13
29. Blennow G., Jaeken J., and Wiklund L.M. Neurological findings in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 375 Suppl. (1991) 14-20
30. Barone R., Barone R., Sturiale L., et al. Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). J Inherit Metab Dis 30 (2007) 107
31. De Zegher F., and Jaeken J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type I from birth through adolescence. Pediatr Res 37 (1995) 395-401
32. Miller B.S., and Freeze H.H. New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system. Rev Endocr Metab Disord 4 (2003) 103-113
33. Kristiansson B., Stibler H., and Wide L. Gonadal function and glycoprotein hormones in the carbohydrate-deficient (CDG) syndrome. Acta Paediatr 84 (1995) 655-660
34. Arnoux J.B., Boddaert N., Valayannopoulous V., et al. Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. Mol Genet Metab 93 (2008) 444-449
35. Enns G.M., Steiner R.D., Buist N., et al. Clinical and molecular features of congenital disorder of glycosylation in patients with type I sialotransferrin pattern and diverse ethnic origins. J Pediatr 141 (2002) 695-700
36. Matthijs G., Schollen E., Bjursell C., et al. Mutation update: mutations in PMM2 cause congenital disorders of glycosylation type Ia (CDG-Ia). Hum Mut 16 (2000) 386-394
37. Silvaggi N.R., Zhang C., Lu Z., et al. The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. J Biol Chem 281 (2006) 14918-14926
38. Pirard M., Matthijs G., Heykants L., et al. Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type Ia on the activity of phosphomannomutase 2. FEBS Lett 452 (1999) 319-322