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Galactosialidosis in a newborn with a novel mutation in the CTSA gene presenting with transient hyperparathyroidism


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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.D’AzzoAAndriaGStrisciugliaPGaljaardH.Galactosialidosis. InScriverCMBeaudetALSlyWSValleDEds. The Metabolic and Molecular Bases of Inherited Disease88New York, NY, USAMcGraw-Hill200138113826Search in Google Scholar

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.ZammarchiEDonatiMAMorroneADonzelliGPZhouXYD’AzzoA.Early-infantile galactosialidosis: Clinical biochemical and molecular observations in a new patientAm J Med Genet.199664345345810.1002/(SICI)1096-8628(19960823)64:3<453::AID-AJMG2>3.0.CO;2-QSearch in Google Scholar

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.ShimmotoMFukuharaYItohKOshimaASakurabaHSuzukiY.Protective protein gene mutations in galactosialidosisJ Clin Invest.19939162393239810.1172/JCI116472Search in Google Scholar

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.PatelMSCallahanJWZhangSChanAKUngerSLevinAVEarly-infantile galactosialidosis: Prenatal presentation and postnatal follow-upAm J Med Genet.1999851384710.1002/(SICI)1096-8628(19990702)85:1<38::AID-AJMG8>3.0.CO;2-3Search in Google Scholar

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.PradaCEGonzaga-JaureguiCTannenbaumRPenneySLupskiJRHopkinRJClinical utility of whole-exomesequencing in rare diseases: GalactosialidosisEur J Med Genet.201457733934410.1016/j.ejmg.2014.04.005Search in Google Scholar

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.LehmanAMattmanASinDParePZongZD’AzzoAEmphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assemblyMol Genet Metab.201210619910310.1016/j.ymgme.2012.02.004Search in Google Scholar

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.ShimmotoMTakanoTFukuharaYOshimaASakurabaHSuzukiY.Japanese-type adult galactosialidosis: A unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase geneProc Jpn Acad.199066B21722210.2183/pjab.66.217Search in Google Scholar

Turker G, Hatun S, Gulleroglu K, Cimenoglu 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.TurkerGHatunSGullerogluKCimenogluFGokalpASCoskunT.Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): Report of two casesTurk J Pediatr.20054743738Search in Google Scholar

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.SathasivamAGaribaldiLMurphyRIbrahimJ.Transient neonatal hyperparathyroidism: A presenting feature of mucolipidosis type IIJ Ped Endocrinol Metab.200619685986210.1515/JPEM.2006.19.6.859Search in Google Scholar

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.EminogluTFOzkanMIgdouraSDursunAZenciroğluA.Transient neonatal hyperparathyroidism: A presenting feature of sialidosis type IIJ Pediatr Endocrinol Metab.2013267-876776910.1515/jpem-2012-0329Search in Google Scholar

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.David-VizcarraGBriodyJAultJFietzMFletcherJSavarirayanRThe natural history and osteodystrophy of mucolipidosis types II and IIIJ Paediatr Child Health.2010466162210.1111/j.1440-1754.2010.01715.xSearch in Google Scholar

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.LinMHPitukcheewanontP.Mucolipidosis type II (I-cell disease) masquerading as rickets: Two case reports and review of literatureJ Pediatr Endocrinol Metab.2012251-219119510.1515/jpem-2011-0429Search in Google Scholar

eISSN:
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Language:
English
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Journal Subjects:
Medicine, Basic Medical Science, other