%0 Case Reports
%T Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report.
%A Almousa M
%A Aljomaa M
%A Hamey S
%A Alasmar D
%J J Med Case Rep
%V 18
%N 1
%D 2024 Apr 9
%M 38589931
暂无%R 10.1186/s13256-024-04448-9
%X <B>BACKGROUND: </B>Fructose-1,6-bisphosphatase deficiency is a rare autosomal recessive disorder characterized by impaired gluconeogenesis. Fructose-1,6-bisphosphatase 1 (FBP1) mutations demonstrate ethnic patterns. For instance, Turkish populations commonly harbor exon 2 deletions. We present a case report of whole exon 2 deletion in a Syrian Arabian child as the first recording of this mutation among Arabian ethnicity and the first report of FBP1 gene mutation in Syria.<BR><B>METHODS: </B>We present the case of a 2.5-year-old Syrian Arab child with recurrent hypoglycemic episodes, accompanied by nausea and lethargy. The patient's history, physical examination, and laboratory findings raised suspicion of fructose-1,6-bisphosphatase deficiency. Whole exome sequencing was performed, revealing a homozygous deletion of exon 2 in the FBP1 gene, confirming the diagnosis.<BR><B>CONCLUSIONS: </B>This case highlights a potential novel mutation in the Arab population; this mutation is well described in the Turkish population, which suggests potential shared mutations due to ancestral relationships between the two ethnicities. Further studies are needed to confirm this finding.