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GENATLAS PHENOTYPE

last update : 11-01-2010

Symbol	GSD13
Location	17p13.2
Name	glycogen storage disease XIII
Other name(s)	enolase 3 deficiency
Corresponding gene	ENO3
Other symbol(s)	ENO3D
Main clinical features	exercise intolerance and myalgias; no rise of serum lactate was observed with the ischemic forearm exercise; ultrastructural analysis showed focal sarcoplasmic accumulation of glycogen-beta particle and severe muscle enolase deficiency
Genetic determination	not applicable
Function/system disorder	metabolism/carbohydrates
Type	disease

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