Two patients from Turkey with a novel variant in the GM2A gene and review of the literature

İNCİ A., ERGİN F. B., BİBEROĞLU G., OKUR İ., EZGÜ F. S., TÜMER L.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.6, ss.805-812, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 34 Sayı: 6
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2020-0655
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.805-812
  • Anahtar Kelimeler: GM2 activator protein deficiency, normal beta-hexosaminidase activity, novel variant, AB-VARIANT, GM2-GANGLIOSIDOSIS, GANGLIOSIDOSIS, MUTATION
  • Gazi Üniversitesi Adresli: Evet

Özet

Objectives: GM2 gangliosidosis is a rare form of inborn errors of metabolism including Tay-Sachs disease, Sandhoff disease, and GM2 activator deficiency. GM2 activator protein deficiency is an ultra-rare form of GM2 gangliosidosis. To date, 16 cases of GM2 activator protein deficiency have been reported in the literature, and among them, 11 cases were the infantile form of the disease. Here we report the first two patients from Turkey with the infantile form of the disease with a novel likely pathogenic variant.