Glycogenosis type 4


Glycogenosis type IV (medical condition): An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition.


Some of the symptoms of Glycogenosis type IV incude: * Failure to thrive * Poor infant weight gain * Lack of infant muscle tone * Gastrointestinal problems * Enlarged liver


Diagnosis: Biopsy of the skin, liver, and muscle. Enzymatic assay of blood cells can also be used for diagnosis.