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
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Abstract

Galactosialidosis is a lysosomal storage disease caused by deficiency of protective protein that is encoded by the cathepsin A (CTSA) gene localized on chromosome 20q13.1. Mutations of this gene are the cause of galactosialidosis that result in loss of function of protective protein. Galactosialidosis is an autosomal recessive inherited disease and has been divided into three subtypes based on age of onset and the severity of clinical manifestations. We report an early infantile form of galactosialidosis in a newborn with a novel mutation on the CTSA gene.



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