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. 2017 Dec 29;20(2):95-98.
doi: 10.1515/bjmg-2017-0031. eCollection 2017 Dec.

Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism

Okulu E M.D  1 , Tunc G  1 , Eminoglu T  2 , Erdeve O  1 , Atasay B  1 , Arsan S  1
Affiliations

Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism

Okulu E M.D et al. Balkan J Med Genet. .

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.

Keywords: Galactosialidosis; Hyperparathyroidism; Newborn.

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Figure 1
Coarse face of the patient.
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