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GENATLAS PHENOTYPE

last update : 12-12-2009

Symbol	GSD7
Location	12q13.1
Name	glycogen storage disease, type VII
Other name(s)	Tarui disease muscle phosphofructokinase deficiency
Corresponding gene	PFKM
Other symbol(s)	PFKM
Main clinical features	classical form with muscle cramps with exertion and myoglobinuria with extreme exertion severe infantile form, leading to death during childhood, onset in infancy with hypotonia, limb weakness, progressive myopathy and respiratory failure leading to death early in the childhood also characterized by compensated hemolytic anemia due to reduction in the erythrocyte PFK activity, and by cardiac abnormalities, such as low voltage electrocardiogram, tachycardia, ventricular hypertrophy systemic disorder, but not simply as a muscle glycogenosis
Genetic determination	autosomal recessive
Related entries	including late onset muscle weakness in partial deficiency
Function/system disorder	metabolism/carbohydrates
Type	disease

Gene product

Name	phosphofructokinase, muscle type (PFKM)

Remark(s)