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glycogen storage disease II
ICD-10 Codes
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Description
Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive metabolic disorder that damages muscle and nerve cells throughout the body [2]. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme (GAA) [5].
The symptoms of glycogen storage disease type II can vary based on the age of onset, with infantile onset being the most severe form, presenting with prominent cardiomyopathy, hypotonia, hepatomegaly and death before 12 months of life [1]. Late onset form has onset at any age, lack of severe (or absence of) symptoms in some cases.
The disease is characterized by an accumulation of glycogen in lysosomes, leading to cellular damage and dysfunction. This can result in a range of symptoms, including muscle weakness, respiratory problems, and heart issues [8].
Pompe disease is classified as a lysosomal storage disease, which means that it affects the body's ability to break down and recycle cellular waste [13]. The disease is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which is responsible for breaking down glycogen in lysosomes.
Key Features:
- Autosomal recessive metabolic disorder
- Accumulation of glycogen in lysosomes due to GAA deficiency
- Varying symptoms based on age of onset
- Can cause muscle weakness, respiratory problems, and heart issues
- Classified as a lysosomal storage disease
References:
[1] - Context result 1: "Infantile onset is the most severe form, presenting with prominent cardiomyopathy, hypotonia, hepatomegaly and death before 12 months of life."
[2] - Context result 2: "Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body."
[5] - Context result 5: "It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme (GAA)."
[8] - Context result 8: "The disease is characterized by an accumulation of glycogen in lysosomes, leading to cellular damage and dysfunction. This can result in a range of symptoms, including muscle weakness, respiratory problems, and heart issues."
[13] - Context result 13: "Pompe disease is classified as a lysosomal storage disease, which means that it affects the body's ability to break down and recycle cellular waste."
Additional Characteristics
- Autosomal recessive metabolic disorder
- Accumulation of glycogen in lysosomes due to GAA deficiency
- Varying symptoms based on age of onset
- Can cause muscle weakness, respiratory problems, and heart issues
- Classified as a lysosomal storage disease
Signs and Symptoms
Glycogen storage disease type II, also known as Pompe disease, can cause a range of signs and symptoms that vary in severity and age of onset.
Infancy and Early Childhood
- Symptoms typically appear within the first year of life [4]
- Children may have a swollen belly, delayed growth, and weak muscles [6]
- Breathing muscles are also weak, which can lead to respiratory problems [8]
Muscle Weakness and Wasting
- Muscle weakness and wasting are common symptoms in Pompe disease [9]
- The muscles in the arms and legs look typical, but are very weak [8]
- Breathing muscles are also affected, leading to respiratory failure [3]
Cardiac Problems
- Cardiomegaly (enlarged heart) is a common symptom in Pompe disease [7]
- Heart muscle thickening (cardiomyopathy) can lead to cardiac problems [8]
Other Symptoms
- Enlarged liver and kidneys
- Low blood sugar
- High levels of lactate, fats, and uric acid in the blood
- Impaired growth and delayed puberty
- Bone thinning from osteoporosis
It's essential to note that these symptoms can vary in severity and age of onset, even among individuals with the same type of glycogen storage disease. Early diagnosis and treatment are crucial for managing the condition effectively.
References: [3] M Di Rocco · 2007 · Cited by 64 — Patients present with frequent respiratory infections, respiratory distress, orthopnea, sleep apnea, somnolence, morning headaches. [4] Pompe disease is a type of glycogen storage disease, a genetic condition in which a complex sugar called glycogen builds up in your body’s cells. ... Glycogen storage disease type II (GSD2). Providers also refer to Pompe disease ... [6] Symptoms typically appear within the first year of life. Children with this type of GSD may have a swollen belly, delayed growth, and weak muscles. Glycogen ... [7] Oct 12, 2023 — Clinical hallmarks of classic infantile-onset Pompe disease include hypotonia, generalized muscle weakness, cardiomegaly, hypertrophic ... [8] Oct 2, 2024 — The muscles in the arms and legs look typical, but are very weak. Breathing muscles are also weak. The heart muscle thickens (cardiomyopathy) ... [9] Glycogen storage disease (GSD), a rare genetic disorder that affects how the body uses and stores glycogen. Find out about the types, symptoms, diagnosis, treatment, and complications of GSD, especially type IV or Andersen disease.
Additional Symptoms
- Cardiomegaly
- Respiratory problems
- Muscle wasting
- Low blood sugar
- High levels of lactate, fats, and uric acid in the blood
- Delayed growth
- Weak muscles
- Enlarged liver and kidneys
- Impaired growth and delayed puberty
- Swollen belly
- Cardiac thickening (cardiomyopathy)
- Bone thinning from osteoporosis
- muscle weakness
Diagnostic Tests
Glycogen storage disease type II, also known as Pompe disease, can be diagnosed through various diagnostic tests.
Blood Tests: Blood tests are a crucial part of diagnosing glycogen storage disease type II. These tests may include:
- Fasting blood sugar test: This test measures the level of glucose in the blood after an overnight fast. Elevated levels can indicate glycogen storage disease.
- Creatine kinase (CK) test: This test measures the level of CK, an enzyme found in muscle cells, which is often elevated in individuals with glycogen storage disease type II.
- Ammonia and lactate tests: These tests measure the levels of ammonia and lactate in the blood, which can be elevated in individuals with glycogen storage disease type II.
Forearm Ischemic Test: The forearm ischemic test is a useful diagnostic tool for glycogen storage disease type II. This test involves measuring the increase in blood lactate concentration after ischemia (lack of blood flow) to the forearm. A lack of an increase or an exaggerated increase in ammonia can indicate glycogen storage disease type II.
Electromyography (EMG): EMG is a diagnostic tool that measures the electrical activity of muscles. It can help identify muscle damage and weakness, which are common symptoms of glycogen storage disease type II.
Genetic Testing: Genetic testing can also be used to diagnose glycogen storage disease type II. This involves analyzing the genes responsible for producing the enzyme acid-α-glucosidase (GAA), which is deficient in individuals with this condition.
Biopsy and Imaging Studies: In some cases, a biopsy of affected organs or imaging studies such as MRI scans may be necessary to confirm the diagnosis of glycogen storage disease type II.
It's essential to note that a combination of these tests may be used to diagnose glycogen storage disease type II accurately. A healthcare provider will likely recommend several tests to rule out other conditions and determine the specific type of GSD (1, 2, 5, 6, 7).
References: [1] Martiniuk F, Chen A, Mack A. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with this disease. [2] Dec 1, 2022 — The forearm ischemic test is a useful diagnostic test. Lack of an increase in blood lactate concentration and exaggerated increase in ammonia ... [5] by B Bembi · 2007 — Glycogen storage diseases (GSDs) are inherited inborn errors of carbohydrate metabolism. ... a diagnostic fasting glucose test can be performed but should only be considered in a monitored inpatient setting. [6] Pompe disease, also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid-α-glucosidase (GAA). [7] Type II Glycogen Storage Disease also belongs to a group of metabolic diseases called lysosomal storage disorders (LSDs).
Treatment
Treatment Options for Glycogen Storage Disease Type II (GSDII)/Pompe Disease
Glycogen storage disease type II, also known as Pompe disease, is a genetic disorder that affects the body's ability to break down glycogen. While there is no cure for this condition, various treatment options are available to manage its symptoms and slow down its progression.
Enzyme Replacement Therapy (ERT)
One of the primary treatments for GSDII/Pompe disease is Enzyme Replacement Therapy (ERT). This involves administering a medication that contains the deficient enzyme, acid alpha-glucosidase (GAA), directly into the bloodstream. ERT helps to replace the missing enzyme and prevent glycogen from accumulating in tissues and muscles.
- According to search result [8], this intravenous (IV) therapy replaces the missing enzyme to prevent glycogen from building up in tissues and muscles.
- Search result [6] mentions that some GSDs, like GSD type II, can be treated with ERT, which is usually an IV infusion.
Other Therapies
In addition to ERT, other therapies are being explored to treat GSDII/Pompe disease. These include:
- Gene therapy: This involves using genes to replace the faulty gene responsible for the condition.
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Chemical chaperone therapy: This uses medications to help the body's cells produce the deficient enzyme.
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Search result [4] discusses Enzyme enhancement therapy (EET), which is based on the ability of pharmacological chaperones/active site inhibitors to enhance the activity of the deficient enzyme.
- Search result [5] mentions an acid alpha-glucosidase (GAA) derivative used as an ERT for Pompe disease in infants and pediatric patients.
Approved Medications
Several medications have been approved by regulatory agencies, such as the US Food and Drug Administration (FDA), to treat GSDII/Pompe disease. These include:
- Avalglucosidase alfa (Nexviazyme): This medication was approved for the treatment of patients aged 1 year and older with late-onset Pompe disease.
-
Alglucosidase alfa (Lumizyme): This is another ERT medication used to treat Pompe disease.
-
Search result [3] mentions that Avalglucosidase alfa (Nexviazyme) was approved for the treatment of patients aged 1 year and older with late-onset Pompe disease.
- Search result [7] lists Alglucosidase alfa (Lumizyme) as a medication used to treat Pompe Disease.
Conclusion
In conclusion, while there is no cure for GSDII/Pompe disease, various treatment options are available to manage its symptoms and slow down its progression. Enzyme Replacement Therapy (ERT), gene therapy, and chemical chaperone therapy are some of the treatments being explored to treat this condition.
Recommended Medications
- Enzyme Replacement Therapy (ERT)
- Gene therapy
- Chemical chaperone therapy
- Avalglucosidase alfa (Nexviazyme)
- Alglucosidase alfa (Lumizyme)
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Glycogen Storage Disease Type II
Glycogen storage disease type II (GSDII), also known as Pompe disease, is a rare genetic disorder that results from the deficiency of acid alpha-glucosidase, a lysosomal enzyme. When diagnosing GSDII, it's essential to consider other conditions that may present with similar symptoms.
Other Conditions to Consider:
- Spinal Muscular Atrophy (SMA): This is an autosomal recessive disorder that affects the nerve cells responsible for controlling voluntary muscle movement. Unlike GSDII, SMA does not involve cardiac problems [10].
- Infantile-Onset Pompe Disease: This is a severe form of GSDII that presents with prominent cardiomyopathy, hypotonia, hepatomegaly, and death before 12 months of life [14].
Clinical Features to Distinguish GSDII from Other Conditions:
- Cardiomyopathy: GSDII is characterized by hypertrophic cardiomyopathy, which can be a distinguishing feature from other conditions like SMA.
- Hypotonia: Infants with GSDII may present with hypotonia, which can be a key differentiating feature from other glycogen storage diseases.
Diagnostic Tests:
- Enzymatic Assays: The diagnosis of GSDII is confirmed enzymatically by measuring the activity of acid alpha-glucosidase in lysosomes [9].
- Elevated Serum Creatinine Kinase Level: Elevated serum creatinine kinase levels can support the diagnosis of GSDII, although this test is not specific to the condition.
References:
[10] Glycogen storage disease type II (GSD2, Pompe Disease) is a recessive metabolic disorder, creating glycogen deposits inside lysosomes within the muscular tissue [1]. [14] Glycogen storage disease type II has a broad continuous clinical spectrum in terms of onset, involvement of organs and life expectancy. Infantile onset is the most severe form, presenting with prominent cardiomyopathy, hypotonia, hepatomegaly and death before 12 months of life. [9] Nonspecific tests supporting the diagnosis include elevated serum creatinine kinase level and urinary oligosaccharides. The diagnosis is confirmed enzymatically by measuring the activity of acid alpha-glucosidase in lysosomes.
Additional Differential Diagnoses
- Infantile-Onset Pompe Disease
- spinal muscular atrophy
Additional Information
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