title: First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
abstract: Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identified in a 65-years-old woman who suffered from lifelong intermittent muscle weakness and painful spasms of random occurrence, episodic dark urines, and slight haemolytic anemia. After ruling out the most common causes of chronic haemolytic anemia, the study of a panel of 24 enzyme activities showed a markedly decreased PFK activity in red blood cells (RBCs) from the patient. DNA sequence analysis of the PFKM gene subsequently revealed a novel homozygous mutation: c.926A>G; p.Asp309Gly. This mutation is predicted to severely affect enzyme catalysis thereby accounting for the observed enzyme deficiency. This case represents a prime example of classical PFK deficiency and is the first reported case of this very rare red blood cell disorder in Spain.
authors.affiliation: Red Cell Pathology Unit, Biomedical Dianostic Centre, University Hospital Clínic de Barcelona Barcelona, Spain.
authors.forename: Joan-Lluis
authors.initials: JL
authors.lastname: Vives-Corrons
authors.affiliation: Faculty of Medicine and Dentistry, Department of Biology, Palacky University Olomouc, Czech Republic.
authors.forename: Pavla
authors.initials: P
authors.lastname: Koralkova
authors.affiliation: Service of Internal Medicine and Muscle, University Hospital Clínic de Barcelona Barcelona, Spain.
authors.forename: Josep M
authors.initials: JM
authors.lastname: Grau
authors.affiliation: Red Cell Pathology Unit, Biomedical Dianostic Centre, University Hospital Clínic de Barcelona Barcelona, Spain.
authors.forename: Maria Del Mar
authors.initials: Mdel M
authors.lastname: Mañú Pereira
authors.affiliation: Department of Clinical Chemistry and Haematology, University Medical Center Utrecht Utrecht, Netherlands.
authors.forename: Richard
authors.initials: R
authors.lastname: Van Wijk
keywords: PFKM gene; enzyme catalysis; glycogen storage disease; missense mutation; phosphofructokinase deficiency