Ontology highlight
ABSTRACT:
SUBMITTER: Sharari S
PROVIDER: S-EPMC7504390 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Sharari Sanaa S Abou-Alloul Mohamad M Hussain Khalid K Hussain Khalid K Ahmad Khan Faiyaz F
International journal of molecular sciences 20200831 17
Accumulation of glycogen in the kidney and liver is the main feature of Fanconi-Bickel Syndrome (FBS), a rare disorder of carbohydrate metabolism inherited in an autosomal recessive manner due to <i>SLC2A2</i> gene mutations. Missense, nonsense, frame-shift (fs), in-frame indels, splice site, and compound heterozygous variants have all been identified in <i>SLC2A2</i> gene of FBS cases. Approximately 144 FBS cases with 70 different <i>SLC2A2</i> gene variants have been reported so far. <i>SLC2A2 ...[more]