<unk>  storage disease type 3 (GSD 3) results due to deficiency of<unk>  debrancher enzyme.<unk>  debrancher enzyme is present in the liver and muscle.<unk>  debrancher enzyme catalyzes the conversion of phosphorylase limit dextrin into glucose-6-phosphate during<unk> olysis. This defect hinders this conversion. The inability of glucose to leave cells leads to fasting hypoglycemia. of<unk> olysis leads to the accumulation of fat and<unk>  deposition resulting in characteristic hepatomegaly. Hepatomegaly is more pronounced when the child is young and decreases as the age progresses. The hepatomegaly leads to protrusion of the abdomen. Myopathy is usually present and becomes more pronounced as age progress. AGL gene mutation is responsible for<unk>  debrancher enzyme deficiency in GSD type 3 and is located on chromosome locus 1p21. GSD type 3 follows an autosomal recessive pattern.  AGL gene mutation responsible for the<unk>  debranching enzyme (GDE) deficiency is located on chromosome 1p21. The incidence of<unk>  storage disease type 3 (GSD 3) is approximately 1 per 100,000 individuals in the United States of America. The most potent risk factor in the development of<unk>  storage disease type 3 is a sibling with<unk>  storage disease type 3. If left untreated, patients with<unk>  storage disease type 3 grow slowly and puberty is delayed. The myopathy of<unk>  storage disease type 3 typically develop in the third to fourth decades of life. It manifests as muscle weakness which is slow and progressive and usually involves large proximal muscle of the shoulder and hips. Common complications of<unk>  storage disease type 3 include left ventricular hypertrophy, myopathy, cardiomyopathy, hepatic adenoma with transformation into hepatocellular carcinoma, cirrhosis and hyperlipidemia. Prognosis is generally good after treatment. The presence of liver disease is associated with a particularly poor prognosis among patients with<unk>  storage disease type 3. The hallmark of<unk>  storage disease type 3 is hepatomegaly. The most common symptoms of<unk>  storage disease include abdominal protuberance and muscle weakness. Physical examination of patients with<unk>  storage disease type 3 is usually remarkable for protruding abdomen due to marked hepatomegaly and  proximal muscle weakness. Laboratory findings consistent with the diagnosis of<unk>  storage disease type 3 include ketotic hypoglycemia, increased creatine kinase, hyperlipidemia, and elevated liver transaminases.<unk>  storage disease type 3 is diagnosed by identification of proband by molecular genetic testing. Molecular genetic testing shows biallelic pathogenic variants in AGL for patients with GSD type 3. The medical therapy of<unk>  storage disease type 3 is directed towards management of hypoglycemia. However, hypoglycemic episodes are less marked in<unk>  storage disease type 3 than<unk>  storage disease type 1. A high protein diet is recommended, especially for children with growth failure and myopathy. A metabolic dietician should be consulted once a case of GSD type 3 is diagnosed. Preferred treatment is use of cornstarch. Liver transplantation is indicated for patients developing histologiocal evidence of cirrhosis. Effective measures for primary prevention of<unk>  storage disease type 3 include genetic counseling, prenatal diagnosis, and screening.
Glycogen storage disease type III
Glycogen storage disease type I CT
Glycogen storage disease type IV
Glycogen storage disease type VII
Glycogen storage disease type V
Glycogen storage disease type VI
Glycogen storage disease type XI
Essential fructosuria