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, vol.34, no.6, pp.805-812, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 34 Issue: 6
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2020-0655
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.805-812
  • Keywords: GM2 activator protein deficiency, normal beta-hexosaminidase activity, novel variant, AB-VARIANT, GM2-GANGLIOSIDOSIS, GANGLIOSIDOSIS, MUTATION
  • Gazi University Affiliated: Yes

Abstract

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.