Gierke

Glycogen storage disease type I (GSD I), also known as Gierke disease, is a group of inherited metabolic disorders characterized by the impairment of glycogen breakdown, leading to the accumulation of glycogen in the liver and kidneys. It is named after the German physician Edgar Gierke, who first described the disease in 1929. GSD I is the most common type of glycogen storage disease, and it primarily affects the liver, resulting in a wide range of symptoms including hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia.

Classification

GSD I is divided into two main subtypes based on the specific enzyme deficiency:

• GSD Ia is caused by a deficiency in the enzyme glucose-6-phosphatase-α (G6Pase-α), which is crucial for glucose production from glycogenolysis and gluconeogenesis.
• GSD Ib is due to a deficiency in the glucose-6-phosphate transporter (G6PT), which transports glucose-6-phosphate into the endoplasmic reticulum where G6Pase-α is located.

Symptoms and Signs

Individuals with GSD I typically present in infancy with symptoms related to hypoglycemia, such as irritability, tremors, and seizures. Other common symptoms include:

• Enlarged liver (hepatomegaly)
• Poor growth
• Lactic acidosis
• Hyperuricemia (excess of uric acid in the blood)
• Hyperlipidemia (high levels of lipids in the blood)
• Kidney disease in later stages

Diagnosis

Diagnosis of GSD I involves a combination of clinical evaluation, laboratory testing, and genetic testing. Laboratory tests may reveal low blood sugar, high levels of lactate, uric acid, and lipids. Genetic testing can confirm the specific subtype of GSD I by identifying mutations in the G6PC gene for GSD Ia or the SLC37A4 gene for GSD Ib.

Treatment

Management of GSD I focuses on maintaining normal blood glucose levels and preventing the complications associated with the disease. Treatment strategies include:

• Frequent meals high in complex carbohydrates
• Cornstarch therapy to provide a slow-release form of glucose
• Medications to treat hyperuricemia and hyperlipidemia
• Liver transplantation in severe cases

Prognosis

With appropriate management, individuals with GSD I can lead relatively normal lives, although they may continue to experience some complications related to the disease. Early diagnosis and treatment are crucial to prevent severe complications.

Epidemiology

GSD I is a rare disorder, with an estimated incidence of 1 in 100,000 to 1 in 140,000 live births worldwide. Both males and females are equally affected.

See Also

• Glycogen storage disease
• Metabolic disorder
• Hypoglycemia
• Liver transplantation