Novel Mutation with Fructose-1,6-Bisphosphatase Deficiency

A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel FBP1 mutation (p.Phe90Val)

Fructose-1,6-bisphosphatase (FBPase) deficiency (OMIM 229700; FBPase; E.C.3.1.3.11) is a very rare autosomal recessive disorder of gluconeogenesis with a frequency of 1–9 per 100,000, which is characterized by recurrent episodes of hypoglycemia with metabolic and lactic acidosis, apnea, hyperventilation, and ketosis (1, 2). Fructose intake, fasting, and febrile infectious disease are known to t...

A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency

Novel allosteric activation site in Escherichia coli fructose-1,6-bisphosphatase.

Fructose-1,6-bisphosphatase (FBPase) governs a key step in gluconeogenesis, the conversion of fructose 1,6-bisphosphate into fructose 6-phosphate. In mammals, the enzyme is subject to metabolic regulation, but regulatory mechanisms of bacterial FBPases are not well understood. Presented here is the crystal structure (resolution, 1.45A) of recombinant FBPase from Escherichia coli, the first stru...

Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency

Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, autosomal recessive inherited disease caused by the mutation of the FBP1 gene, the incidence is estimated to be between 1/350,000 and 1/900,000. The symptoms of affected individuals are non-specific and are easily confused with other metabolic disorders. The present study describes the clinical features of four Chinese pediatric patient...

Crystallographic data for chicken liver fructose bisphosphatase.

Large, single crystals of fructose bisphosphatase have been obtained under a variety of conditions. Preliminary crystallographic analysis reveals that the space group is R3, the cell dimensions on the hexagonal axes are a = b = 304 A and c = 80.4 A, and there is one tetramer per asymmetric unit.