Article
[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia].
Ugeskrift for laeger - 13 Nov 2006
Prahl Pernille, Christensen Ernst, Hansen Lars, Mortensen Henrik B
Abstract excerpt
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)...
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