title: [Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia].
abstract: Fructose 1,6-bisphosphatase (FBPase) deficiency is an autosomal recessive disorder of gluconeogenesis. Here we describe a family from Morocco with parental consanguinity with three affected children. All were homozygous for a novel mutation in exon 5: 685 C-->T of the gene coding for the liver isoform of fructose 1,6-bisphosphatase (FBP1). The mutation changed the amino acid codon (Q229X) from a glutamine (CAG) in position 229 to a stop codon (TAG), which caused a shortening of the protein from the normal 338 amino acids to 228. The shortened protein lacks a major part of the active site and is therefore probably without enzymatic activity.
authors.affiliation: Amtssygehuset i Glostrup, Paediatrisk Afdeling. pernilleoganders@wanadoo.dk
authors.forename: Pernille
authors.initials: P
authors.lastname: Prahl
authors.forename: Ernst
authors.initials: E
authors.lastname: Christensen
authors.forename: Lars
authors.initials: L
authors.lastname: Hansen
authors.forename: Henrik B
authors.initials: HB
authors.lastname: Mortensen
mesh_terms: D003241:Consanguinity; D003937:Diagnosis, Differential; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006597:Fructose-Bisphosphatase / Q000235:genetics; D006801:Humans; D007003:Hypoglycemia / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
chemical_list: D006597:Fructose-Bisphosphatase