Prepair 1000+

Gene: PFKM

Green List (high evidence)

From babyscreen review: GSD type VII - mostly presents in adulthood with rhabdomyolysis, myopathy, exercise intolerance, haemolysis, gout. May cause childhood onset progressive myopathy (PMID: 22364848). There is a rare form with onset in infancy - limb weakness, seizures, cortical blindness, and corneal clouding, and respiratory failure

PMID: 22364848:"The onset of this disease generally occurs during childhood, and is often clinically undistinguishable from McArdle disease, except for the absence of the second wind phenomenon, with even worsening of the exercise intolerance after glucose intake." and "5 phenotypic subtypes: type I is the classic syndrome characterized by exertional myopathy and hemolysis; type II by isolated myopathy; type III by isolated hemolysis; type IV by the asymptomatic partial deficiency of red cell PFK; type V could represent the rare progressive, fatal myopathy of infancy"

Created: 31 Oct 2024, 3:07 a.m. | Last Modified: 31 Oct 2024, 3:07 a.m.

Panel Version: 1.545

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease VII MIM#232800

Publications

• 22364848