Clinical Findings

Classical branching enzyme deficiency most frequently presents during the first few months of life, with hepatosplenomegaly and failure to thrive. Progressive liver cirrhosis, with portal hypertension, ascites, esopha-geal varices, and death, usually occurs before 5 years of age. However, there are patients who have survived without apparent progressive liver disease. The neuromuscular system may also be involved. Severe cardiomyopathy as the predominant symptom has also been reported.[20] The diagnosis of type IV is established by demonstration of abnormal glycogen (an amylopectin-like polysaccharide) and a deficiency of glycogen branching enzyme in liver, muscle, or fibroblasts.

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