Glycogen debranching enzyme and progressive muscle involvement, with variations caused by age of onset, rate of disease progression and severity. Patients with Type IIIb generally symptoms related to liver disease. Type III patients be distinguished by elevated liver enzymes, with normal uric acid and blood lactate levels, differing from other forms of GSD. In patients with muscle involvement, Type IIIa, the muscle weakness becomes predominant into adulthood and can lead to ventricular hypertrophy and distal muscle wasting. Glycogen debranching enzyme A debranching enzyme is a molecule that helps facilitate the breakdown of glycogen, which serves as a store of glucose in the body,
Glycogen storage disease type 0 of asymptomatic and oligosymptomatic siblings in several glycogen-storage disease type 0 families has suggested that glycogen-storage disease type 0 is underdiagnosed. The major morbidity is a risk of fasting hypoglycemia, which can vary in severity and frequency. Major long-term concerns include growth delay, osteopenia, and neurologic damage resulting in developmental delay, intellectual deficits, and personality changes. No sexual predilection is observed because the deficiency of glycogen synthetase activity is inherited as an autosomal recessive trait. Glycogen-storage disease type 0 is most commonly diagnosed during infancy and early childhood. Glycogen storage disease type 0 Glycogen storage disease type 0 is a