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


Kartal A., Aydin K.

METABOLIC BRAIN DISEASE, cilt.32, ss.973-975, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 32 Konu: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s11011-017-0042-0
  • Dergi Adı: METABOLIC BRAIN DISEASE
  • Sayfa Sayıları: ss.973-975

Özet

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.