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Title: First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
Author: Vives i Corrons, Joan Lluís
Koralkova, Pavla
Grau Junyent, Josep M. (Josep Maria)
Mañú Pereira, María del Mar
Wijk, Richard van
Keywords: Errors congènits del metabolisme
Malalties hereditàries
Inborn errors of metabolism
Genetic diseases
Issue Date: 30-Dec-2013
Publisher: Frontiers Media
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.
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It is part of: Frontiers in Physiology, 2013, vol. 4
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ISSN: 1664-042X
Appears in Collections:Articles publicats en revistes (Medicina)

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