Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis.

Abstract excerpt

Fructose-1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder caused by a mutation of the fructose-1,6-bisphosphatase 1 (FBP1) gene and results in impaired gluconeogenesis. We describe a male patient with typical FBPase deficiency who presented with hypoglycemia and lactic acidosis. The FBPase activity in his peripheral leukocytes and liver was very low. We amplified and sequenced the entire...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acidosis, Lactic
• Share to Chlorocebus aethiops