Glycogen storage disease type 6, due to phosphorylation

Glycogen Storage Disease Type 6 (GSD VI), also known as Hers' disease, is a genetic disorder that affects the liver's ability to break down glycogen into glucose. This condition is caused by a deficiency in the enzyme phosphorylase, which is crucial for the glycogenolysis pathway. GSD VI is one of several Glycogen storage diseases that interfere with the body's glycogen metabolism, leading to various symptoms primarily related to the liver and metabolic system.

Symptoms and Diagnosis

Patients with GSD VI typically present with mild to moderate symptoms, which may include enlarged liver, low blood sugar levels, ketotic hypoglycemia, and growth retardation. Unlike other forms of Glycogen Storage Diseases, muscle involvement is rare in GSD VI. The diagnosis of GSD VI is often made based on clinical presentation, laboratory findings showing impaired glycogen breakdown, and confirmed by genetic testing identifying mutations in the PYGL gene responsible for encoding the liver phosphorylase enzyme.

Treatment

The management of GSD VI focuses on maintaining normal blood glucose levels and preventing hypoglycemia. This is often achieved through dietary modifications, including frequent meals high in complex carbohydrates and cornstarch therapy to provide a slow-release glucose source. Regular monitoring and supportive care by a team of specialists knowledgeable in metabolic disorders are essential for managing the condition.

Genetics

GSD VI is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disease. Carriers, who have only one copy of the mutation, typically do not show symptoms of the disease.

Epidemiology

GSD VI is considered a rare disease, with its exact prevalence unknown. It is less common than Glycogen storage disease type I, but among the glycogen storage diseases affecting the liver, it is one of the more mild forms.

See Also

• Glycogen storage disease type I
• Hepatomegaly
• Hypoglycemia
• Metabolic disorder

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