Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins

Journal of Pediatrics

Volumn 141, Issue 5, 2002, Pages 695-700

  Enns, Gregory M ^{a,b,c,d,e,f,g,h,i}   Steiner, Robert D ^{a,b,c,d,e,f,g,h,i}   Buist, Neil ^{a,b,c,d,e,f,g,h,i}   Cowan, Charles ^{a,b,c,d,e,f,g,h,i}   Leppig, Kathleen A ^{a,b,c,d,e,f,g,h,i}   McCracken, Marjorie F ^{a,b,c,d,e,f,g,h,i}   Westphal, Vibeke ^{a,b,c,d,e,f,g,h,i}   Freeze, Hudson H ^{a,b,c,d,e,f,g,h,i}   O'Brien, John F ^{a,b,c,d,e,f,g,h,i}   Jaeken, Jaak ^{a,b,c,d,e,f,g,h,i}   Matthijs, Gert ^{a,b,c,d,e,f,g,h,i}   Behera, Sarina ^{a,b,c,d,e,f,g,h,i}   Hudgins, Louanne ^{a,b,c,d,e,f,g,h,i}  

^a STANFORD UNIVERSITY   (United States)

^b San Jose Hospital   (United States)

^c BURNHAM INSTITUTE   (United States)

^d CHILDREN S HOSPITAL LOS ANGELES   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

^g MAYO CLINIC   (United States)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; PHOSPHOMANNOMUTASE; SIALOTRANSFERRIN 1; TRANSFERRIN; UNCLASSIFIED DRUG;

ARTICLE; ASIAN; CEREBELLUM HYPOPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; ETHNIC GROUP; FEMALE; GENE MUTATION; HUMAN; INFANT; LIPID STORAGE; MALE; MOLECULAR BIOLOGY; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NORTH AMERICA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; STRABISMUS;

EID: 0036842354     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2002.128658     Document Type: Article

References (25)

1. Freeze HH. Disorders in protein glycosylation and potential therapy: Tip of the iceberg? J Pediatr 1998;133:593-600.
2. Krasnewich D, Gahl W. Carbohydrate-deficient glycoprotein syndrome. Adv Pediatr 1997;44:109-40.
3. Patterson MC. Screening for "prelysosomal disorders": Carbohydrate-deficient glycoprotein syndromes. J Child Neurol 1999;14(Suppl 1):S16-22.
4. Jaeken J, Hagberg B, Stromme P. Clinical presentation and natural course of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand Suppl 1991;375:6-13.
5. Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, et al. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type I. J Inherit Metab Dis 2000;23:162-74.
6. de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases. J Med Genet 2001;38:14-9.
7. Westphal V, Enns GM, McCracken MF, Freeze HH. Functional analysis of novel mutations in a congenital disorder of glycosylation I: A patient with mixed Asian ancestry. Mol Genet Metab 2001;78:71-6.
8. Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type IA. Am J Hum Genet 1998;62:542-50.
9. Lacey JM, Bergen HR, Magera MJ, Naylor S, O'Brien JF. Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. Clin Chem 2001;47:513-8.
10. Grünewald S, Schollen E, van Schaftingen E, Jaeken J, Matthijs G. High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Am J Hum Genet 2001;68:347-54.
11. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum aryl-sulphatase A and increased CSF protein: A new syndrome? [abstract] Pediatr Res 1980;14:179.
12. Di Rocco M, Barone R, Adami A, Burlina A, Carrozzi M, Dionisi-Vici C, et al. Carbohydrate-deficient glycoprotein syndromes: The Italian experience. J Inherit Metab Dis 2000;23:391-5.
13. Jaeken J, Matthijs G. Congenital disorders of glycosylation. Annu Rev Genomics Hunt Genet 2001;2:129-51.
14. Jaeken J, Carchon H. Congenital disorders of glycosylation: The rapidly growing tip of the iceberg. Curr Opin Neurol 2001;14:811-5.
15. van Ommen CH, Peters M, Barth PG, Vreken P, Wanders RJA, Jaeken J. Carbohydrate-deficient glycoprotein syndrome type Ia: A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. J Pediatr 2000;136:400-3.
16. Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, et al. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. Genet Med 2001;3:393-8.
17. Barone R, Pavone L, Fiumara A, Bianchini R, Jaeken J. Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency). Brain Dev 1999;21:260-3.
18. Blennow G, Jaeken J, Wiklund LM. Neurological findings in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Stand Suppl 1991; 375:14-20.
19. Leonard J, Grünewald S, Clayton P. Diversity of congenital disorders of glycosylation. Lancet 2001;357:1382-3.
20. Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, et al. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-1a). Hum Mutat 2000;16:386-94.
21. Niehues 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.
22. Kjaergaard S, Kristiansson B, Stibler H, Freeze HH, Schwartz M, Martinsson T, et al. Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type IA. Acta Paedlatr 1998;87:884-8.
23. Mayatepek E, Schröder M, Kohlmüller D, Bieger WP, Nützenadel W. Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I. Acta Paediatr 1997;86:1138-40.
24. Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O'Brlen JF, Vockley J, Freeze HH, et al. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. J Pediatr 1999;135:775-81.
25. de Lonlay P, Cuer M, Vuillaumier-Barrot S, Beaune G, Castelnau P, Kretz M, et al. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. J Pediatr 1999;135:179-83.