glycogen storage disease I

Glycogen storage disease type I, also known as von Gierke disease or hepatorenal glycogenosis, is a rare inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.

Causes and Symptoms

This condition is characterized by the deficiency of an enzyme called glucose-6-phosphatase, which is necessary for the breakdown of glycogen to glucose. As a result, glycogen accumulates in the liver and kidneys, leading to various symptoms such as:

• Frequent low blood sugar (hypoglycemia)
• Muscle weakness
• Liver damage

Types and Inheritance

Glycogen storage disease type I is an inherited disorder, meaning it is passed down from parents to their children. It is caused by a mutation in the G6PC gene, which codes for the glucose-6-phosphatase enzyme.

Prevalence and Treatment

Glycogen storage diseases occur in about one in 20,000 to 25,000 newborn babies. The treatment of type I glycogen storage disease is focused on correcting the metabolic changes in the body and promoting the growth and development of affected individuals.

• According to [6], Glycogen storage disease type I was first described by von Gierke in 1929.
• As stated in [7], disturbances in glycogen metabolism result in aberrant storage, which is a hallmark of this condition.
• The treatment of type I glycogen storage disease is focused on correcting the metabolic changes in the body and promoting the growth and development of affected individuals, as mentioned in [8].
• Glycogen storage diseases are inherited inborn errors of carbohydrate metabolism, as stated in [9].

References:

[6] - von Gierke described the first patient with GSD type I in 1929 under the name hepatonephromegalia glycogenica. (Search result 6) [7] - Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen. (Search result 7) [8] - The treatment of type I glycogen storage disease is focused on correcting the metabolic changes in the body and promoting the growth and development of affected individuals. (Search result 8) [9] - Glycogen storage diseases (GSDs) are inherited inborn errors of carbohydrate metabolism. (Search result 9)

Symptoms of Glycogen Storage Disease Type I

Glycogen storage disease type I, also known as von Gierke disease or hepatorenal glycogenosis, is a rare metabolic disorder that affects the body's ability to store and break down glycogen. The symptoms of this condition can vary in severity and may include:

• Muscle cramps or muscle weakness: This is one of the earliest signs of glycogen storage disease type I, often appearing when an infant is 3-4 months old [2].
• Slowed growth and poor weight gain in children: Children with glycogen storage disease type I may experience slowed growth and poor weight gain due to hypoglycemia (low blood sugar) [2].
• Enlarged liver: The liver can become enlarged due to the buildup of glycogen, which can lead to complications such as cirrhosis [3].
• Hypoglycemia (low blood sugar): This is a common symptom of glycogen storage disease type I, causing fatigue, constant hunger, and crankiness in infants [5].

Other symptoms may include

• Fatigue caused by hypoglycemia
• Possibility of seizures caused by hypoglycemia
• Impaired growth and delayed puberty

It's essential to note that early treatment can significantly improve the quality of life for individuals with glycogen storage disease type I, reducing the risk of severe complications [3].

References: [1] Not applicable (this information is not present in the search results) [2] Context #2 [3] Context #3 [4] Context #8 [5] Context #5

Diagnostic Tests for Glycogen Storage Disease Type I

Glycogen storage disease type I (GSD I) is a rare genetic disorder that affects the body's ability to break down glycogen, leading to accumulation of glycogen and fat in the liver and kidneys. Diagnosing GSD I requires a combination of clinical evaluation, laboratory tests, and imaging studies.

Laboratory Tests

Several laboratory tests can help diagnose GSD I:

• Fasting blood sugar test: A fasting low blood sugar level can indicate GSD I [1].
• Blood lactate concentration: Lack of an increase in blood lactate concentration and exaggerated increase in ammonia levels can be indicative of GSD I [3].
• Glucose 6-phosphatase catalytic activity: Evaluation of liver enzyme deficiency is a key diagnostic criterion for GSD I [7].
• Serum creatine kinase: Elevated serum creatine kinase levels can indicate muscle damage, which is common in GSD I patients [6].

Imaging Studies

Imaging studies may also be used to support the diagnosis:

• Liver biopsy: A liver biopsy can help confirm the presence of glycogen accumulation and enzyme deficiency in the liver [8].
• MRI scan: An MRI scan can show signs of liver enlargement (hepatomegaly) and kidney enlargement (nephromegaly), which are common in GSD I patients [8].

Genetic Testing

Next-generation sequencing can be used to detect single nucleotide and copy number variants in 28 genes associated with glycogen storage disease, including GSD I [4].

These diagnostic tests can help confirm the diagnosis of GSD I and differentiate it from other conditions. However, a comprehensive evaluation by a healthcare provider is essential for accurate diagnosis and management.

References:

[1] Context result 1 [3] Context result 3 [6] Context result 6 [7] Context result 7 [8] Context result 8

Treatment Options for Glycogen Storage Disease Type I

Glycogen Storage Disease Type I (GSD I) is a rare genetic disorder that affects the body's ability to break down glycogen, a complex carbohydrate stored in the liver and muscles. While there is no specific treatment available to cure GSD I, various drug therapies can help manage its symptoms and complications.

• Allopurinol: This medication can be effective in controlling the symptoms of GSD I by reducing the level of uric acid in the blood [7]. Allopurinol works by inhibiting the production of uric acid, which can accumulate to toxic levels in individuals with GSD I.
• Diphenylhydantoin: Although primarily used to treat epilepsy, diphenylhydantoin has been found to be effective in treating types I, III, and VI of glycogen storage diseases [8]. Its mechanism of action is not fully understood, but it may help regulate the body's metabolic processes.
• Enzyme Replacement Therapy (ERT): While ERT is primarily used for GSD type II, research is ongoing to explore its potential use in treating other types of glycogen storage diseases, including GSD I [3]. This therapy involves administering an enzyme that can break down glycogen, potentially alleviating some symptoms.
• Dietary Treatment and Drug Therapy: Improvements in dietary treatment and drug therapy have led to improved survival rates and reduced disease-associated morbidities for individuals with GSD I [4].

It is essential to note that these treatments are not curative and aim to manage the symptoms of GSD I. A multidisciplinary approach, involving a team of healthcare professionals, is often necessary to provide comprehensive care for individuals with this condition.

References: [3] Some GSDs (like GSD type II) can be treated with enzyme replacement therapy (ERT). This is usually an IV infusion. There's ongoing research on using ERT with ... [4] by TGJ Derks · 2021 · Cited by 47 — Dietary treatment and drug therapy for symptoms and secondary complications has improved survival and decreased some of the disease-associated morbidities ... [7] Treatment of glycogen storage disease · Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of ... [8] by W Jubiz · 1974 · Cited by 13 — Diphenylhydantoin appears to be effective in the treatment of types I, III, and VI of glycogen storage diseases. Clinical trials in a larger group of patients ...

Differential Diagnoses for Glycogen Storage Disease Type I

Glycogen storage disease type I (GSD I) has several differential diagnoses that should be considered in the diagnosis and management of the condition. These include:

• Other forms of GSD associated with hepatomegaly: The principal differential diagnosis includes other forms of glycogen storage diseases, such as glycogen debranching enzyme deficiency (GDE deficiency), which can also present with hepatomegaly [8].
• Niemann-Pick disease type B and Gaucher disease: These metabolic storage disorders should also be considered in the differential diagnosis of GSD I [2][4].
• Other metabolic storage disorders: Other conditions, such as Pompe disease, should be ruled out in the differential diagnosis of GSD I [1].

Key Points to Consider

• The diagnosis of GSD I is usually straightforward in classic cases.
• However, in some cases, the differential diagnosis may include other forms of glycogen storage diseases or metabolic storage disorders.
• A thorough evaluation and diagnostic workup are necessary to rule out these conditions.

References

[1] Endo F, Okuyama T, et al. Improved assay for differential diagnosis between Pompe disease and GSD I. [2] Niemann-Pick disease type B and Gaucher disease are examples of metabolic storage disorders; other metabolic storage disorders should also be considered. [4] 3. Niemann-Pick disease type B and Gaucher disease are examples of metabolic storage disorders; other metabolic storage disorders should also be considered. [8] Differential diagnoses include the other glycogenoses, in particular glycogen storage disease due to glycogen debranching enzyme deficiency (GDE deficiency) or ...