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Case Reports
. 2006 Nov 13;168(46):4014-5.

[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia]

[Article in Danish]
Pernille Prahl  1 , Ernst Christensen, Lars Hansen, Henrik B Mortensen
Affiliations
  • PMID: 17125659
Case Reports

[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia]

[Article in Danish]
Pernille Prahl et al. Ugeskr Laeger. .

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.

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