A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene


Kartal A., Aydin K.

METABOLIC BRAIN DISEASE, vol.32, no.4, pp.973-975, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.1007/s11011-017-0042-0
  • Title of Journal : METABOLIC BRAIN DISEASE
  • Page Numbers: pp.973-975

Abstract

Galactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal beta-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35 weeks of gestation. After birth she remained at the neonatal intensive care unit. Physical examination revealed, coarse facial features, hepatomegaly, cardiac murmur and diffuse hypotonia. The patient's mother had a past history of fetal hydrops history. The diagnosis of galactosialidosis was confirmed by decreased activity of beta-galactosidase and undetectable neuraminidase activity in fibroblasts. Genetic examination revealed a new homozygous mutation (c.1284delG) in the CTSA gene.