Rhabdomyolysis and Metabolic Myopathy
Gene: PFKM
Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively.
Well established gene-disease association.Created: 27 Apr 2022, 9:05 a.m. | Last Modified: 27 Apr 2022, 9:05 a.m.
Panel Version: 0.13408
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII, MIM# 232800
Publications
Gene: pfkm has been classified as Green List (High Evidence).
Phenotypes for gene: PFKM were changed from Glycogen storage disease VII 232800 to Glycogen storage disease VII, MIM# 232800
Publications for gene: PFKM were set to
gene: PFKM was added gene: PFKM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII 232800