1.
J Pediatr Endocrinol Metab
; 30(6): 703-706, 2017 May 24.
Article
En
| MEDLINE
| ID: mdl-28599390
Fructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygous Arthrobacter luteus (Alu) insertion in the FBP1 gene, reported for the first time.
Alu Elements , Fructose-1,6-Diphosphatase Deficiency/diagnosis , Fructose-1,6-Diphosphatase Deficiency/genetics , Fructose-Bisphosphatase/genetics , Homozygote , Mutation , Base Sequence , Child , Delayed Diagnosis , Female , Fructose-Bisphosphatase/metabolism , Humans , Sequence Homology