GALACTOSIALIDOSIS IN A NEWBORN WITH A NOVEL MUTATION IN THE CTSA GENE PRESENTING WITH TRANSIENT HYPERPARATHYROIDISM


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Okulu E., Tunc G. , Eminoglu T., Erdeve O., Atasay B., Arsan S.

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.20, sa.2, ss.95-97, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Konu: 2
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1515/bjmg-2017-0031
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.95-97

Özet

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.