Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis

J Pediatr Endocrinol Metab. 2017 May 24;30(6):703-706. doi: 10.1515/jpem-2017-0078.

Abstract

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.

Keywords: Alu insertion; fructose-1,6-bisphosphatase deficiency; lactic acidosis; recurrent hypoglycemia; urine glycerol.

Publication types

  • Case Reports

MeSH terms

  • Alu Elements*
  • Base Sequence
  • Child
  • Delayed Diagnosis
  • Female
  • Fructose-1,6-Diphosphatase Deficiency / diagnosis*
  • Fructose-1,6-Diphosphatase Deficiency / genetics*
  • Fructose-Bisphosphatase / genetics*
  • Fructose-Bisphosphatase / metabolism
  • Homozygote*
  • Humans
  • Mutation*
  • Sequence Homology

Substances

  • Fructose-Bisphosphatase