Balkan Journal of Medical Genetics

GALACTOSIALIDOSIS IN A NEWBORN WITH A NOVEL MUTATION IN THE CTSA GENE PRESENTING WITH TRANSIENT HYPERPARATHYROIDISM
Okulu E1,*, Tunc G1, Eminoglu T2, Erdeve O1, Atasay B1, Arsan S1
*Corresponding Author: Emel Okulu, M.D., Department of Pediatrics, Division of Neonatology, Ankara University School of Medicine, Tip Fakultesi Street, 06620 Mamak, Ankara, Turkey. Tel: +90-312-595-6599. Fax: +90-312-319-1440. E-mail: emelokulu@gmail.com
page: 95

REFERENCES

1. D’Azzo A, Andria G, Strisciuglia P, Galjaard H. Galactosialidosis. In: Scriver CM, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. 8th ed. New York, NY, USA: McGraw-Hill. 2001: 3811-3826. 2. Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, D’Azzo A. Early-infantile galactosialidosis: Clinical biochemical and molecular observations in a new patient. Am J Med Genet. 1996; 64(3): 453- 458. 3. Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y. Protective protein gene mutations in galactosialidosis. J Clin Invest. 1993; 91(6): 2393- 2398. 4. Patel MS, Callahan JW, Zhang S, Chan AK, Unger S, Levin AV, et al. Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up. Am J Med Genet. 1999; 85(1): 38-47. 5. Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, et al. Clinical utility of whole-exomesequencing in rare diseases: Galactosialidosis. Eur J Med Genet. 2014; 57(7): 339-344. 6. Lehman A, Mattman A, Sin D, Pare P, Zong Z, D’Azzo A, et al. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. Mol Genet Metab. 2012; 106(1): 99-103. 7. Shimmoto M, Takano T, Fukuhara Y, Oshima A, Sakuraba H, Suzuki Y. Japanese-type adult galactosialidosis: A unique and common splice junction mutation causing exon skipping in the protective protein/ carboxypeptidase gene. Proc Jpn Acad. 1990; 66(B): 217-222. 8. Turker G, Hatun S, Gulleroglu K, Cımenoglu F, Gokalp AS, Coskun T. Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): Report of two cases. Turk J Pediatr. 2005; 47(4): 37-38. 9. Sathasivam A, Garibaldi L, Murphy R, Ibrahim J. Transient neonatal hyperparathyroidism: A presenting feature of mucolipidosis type II. J Ped Endocrinol Metab. 2006; 19(6): 859-862. 10. Eminoglu TF, Ozkan M, Igdoura S, Dursun A, Zenciroğlu A. Transient neonatal hyperparathyroidism: A presenting feature of sialidosis type II. J Pediatr Endocrinol Metab. 2013; 26(7-8): 767-769. 11. David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, et al. The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health. 2010; 46(6): 16-22. 12. Lin MH, Pitukcheewanont P. Mucolipidosis type II (I-cell disease) masquerading as rickets: Two case reports and review of literature. J Pediatr Endocrinol Metab. 2012; 25(1-2): 191-195.

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