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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