Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance

Beyzaei Z., EZGÜ F. S., Imanieh M. H., Haghighat M., Dehghani S. M., Honar N., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.36, sa.3, ss.331-334, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 3
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1515/jpem-2022-0566
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, MEDLINE
  • Sayfa Sayıları: ss.331-334
  • Anahtar Kelimeler: hereditary fructose intolerance, targeted gene sequencing, variant ALDOB
  • Gazi Üniversitesi Adresli: Evet

Özet

Objectives: Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far.Case presentation: Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy. Therefore, targeted-gene sequencing (TGS) covering 450 genes involved in inborn errors in metabolic diseases was performed. The results of TGS showed a rare novel homozygous pathogenic variant c.944del (p.Gly315ValfsTer15) in the ALDOB gene.Conclusions: This report introduces a novel variant that expands the mutational spectrum of the ALDOB gene in patients with HFI.