A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene
Küçük Resim Yok
Tarih
2017
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
SPRINGER/PLENUM PUBLISHERS
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
Galactosialidosis, Lysosomal storage disease, Homozygous mutation, Fetal hydrops
Kaynak
METABOLIC BRAIN DISEASE
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
32
Sayı
4
