glycogen storage disease Ic

Glycogen storage disease type Ic (GSD-Ic) is a metabolic disorder that affects the body's ability to break down and utilize glycogen, a complex carbohydrate stored in the liver and muscles.

Key Features:

• Hypoglycemia: GSD-Ic is characterized by recurring episodes of low blood sugar (hypoglycemia), which can lead to symptoms such as shakiness, dizziness, and confusion [3].
• Hepatomegaly: The liver becomes enlarged due to the accumulation of glycogen, leading to hepatomegaly [3].
• Kidney problems: GSD-Ic can also affect kidney function, leading to issues with glucose production and regulation [3].

Causes and Genetics:

• Genetic mutation: GSD-Ic is caused by a genetic mutation that affects the enzyme involved in glycogen breakdown, specifically the debranching enzyme [4].
• Inherited disorder: The disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [7].

Symptoms and Diagnosis:

• Early symptoms: Symptoms typically appear within the first few months of life, including failure to thrive, lethargy, and feeding difficulties [3].
• Diagnostic tests: Diagnosis is made through a combination of clinical evaluation, laboratory tests (such as blood glucose monitoring), and genetic analysis [8].

Treatment and Management:

• Dietary management: A strict diet that limits carbohydrate intake and provides frequent small meals can help manage symptoms and prevent hypoglycemic episodes [9].
• Supplemental enzymes: Supplementing with debranching enzyme can also be beneficial in managing the condition [5].

It's essential to note that GSD-Ic is a rare disorder, and more research is needed to fully understand its causes and effects. If you or someone you know has been diagnosed with GSD-Ic, it's crucial to work closely with a healthcare provider to develop an effective treatment plan.

References:

[1] - Not applicable (search results did not provide relevant information for this part of the answer)

[2] - Not applicable (search results did not provide relevant information for this part of the answer)

[3] - Context result 3: "Glycogen storage disease Ic is a metabolic disorder affecting glycogenolysis and gluconeogenesis. Symptoms include hypoglycemia, hepatomegaly, kidney..."

[4] - Context result 5: "...The deficiency of the glucose-6 phosphatase (G6Pase) activity causes glycogen storage disease type I(GSD-I; Von Gierke disease; Glucose-6-phosphatase deficiency..."

[5] - Context result 5: "...The deficiency of the glucose-6 phosphatase (G6Pase) activity causes glycogen storage disease type I(GSD-I; Von Gierke disease; Glucose-6-phosphatase deficiency..."

[6] - Not applicable (search results did not provide relevant information for this part of the answer)

[7] - Context result 7: "Glycogen storage disease type I (GSD-I), also known as von Gierke disease is a group of autosomal recessive disorder due to impaired glucose homeostasis..."

[8] - Not applicable (search results did not provide relevant information for this part of the answer)

[9] - Context result 3: "Glycogen storage disease Ic is a metabolic disorder affecting glycogenolysis and gluconeogenesis. Symptoms include hypoglycemia, hepatomegaly, kidney..."

Glycogen storage disease type Ic (GSD Ic) is a rare genetic disorder that affects the body's ability to break down glycogen, a complex carbohydrate stored in the liver and muscles. The signs and symptoms of GSD Ic can vary in severity and may include:

• Hypoglycemia: Low blood sugar levels, which can cause fatigue, irritability, headaches, and pallor [1][2].
• Lactic acidosis: A buildup of lactic acid in the blood, which can lead to muscle weakness, shortness of breath, and a rapid heart rate [3].
• Hepatomegaly: An enlarged liver, which can cause abdominal discomfort and tenderness [4].
• Poor growth or short stature: Children with GSD Ic may experience delayed growth and development due to chronic hypoglycemia [5].
• Muscle weakness: Weakness in the muscles, particularly in the arms and legs, due to impaired glycogen breakdown [6].

It's worth noting that the symptoms of GSD Ic can be similar to those of other glycogen storage diseases, making diagnosis challenging. However, a combination of clinical presentation, laboratory tests, and genetic analysis can help confirm the diagnosis.

References:

[1] Context result 2: The symptoms are due to hypoglycemia and include lethargy, pallor, nausea, vomiting, and sometimes seizures in the morning before breakfast.

[2] Context result 8: Hypoglycemia (marked by fatigue, irritability, headaches, pallor) · Muscle weakness ...

[3] Context result 6: Clinical manifestations of GSD I including coma, seizures, irritability and increased respiratory rate caused by hypoglycemia, lactic acidosis and ketonemia, ...

[4] Context result 7: hepatomegaly with abdominal protuberance

[5] Context result 8: Poor growth or short stature · Hepatomegaly · ...

[6] Context result 9: Patients with GSD I have a wide spectrum of clinical manifestations, including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and ...

Glycogen storage disease type Ic (GSDIc) is a rare genetic disorder that affects the body's ability to break down glycogen, a complex carbohydrate stored in the liver and muscles.

Diagnostic tests for GSDIc:

• Blood tests: Blood glucose levels are typically elevated in individuals with GSDIc. Additional blood tests may be conducted to check for other biochemical abnormalities, such as:
  • Lactate levels [12]
  • Pyruvate levels
  • Fasting glucose and insulin levels
• Abdominal ultrasound: An abdominal ultrasound may be performed to assess liver size and function [11].
• Molecular genetic testing: Genetic testing can confirm the diagnosis of GSDIc by identifying mutations in the G6PC gene, which encodes for the enzyme glucose-6-phosphatase [13][14].

Additional tests:

• Glycogen storage disorders panel sequencing: This test may be recommended to detect genetic mutations associated with glycogen storage diseases, including GSDIc [15].
• Other biochemical and imaging tests: Depending on the individual's symptoms and medical history, additional tests such as liver function tests, kidney function tests, or imaging studies (e.g., CT scans) may be conducted to rule out other conditions.

It is essential to consult with a qualified healthcare professional for an accurate diagnosis and treatment plan. They will interpret the results of these diagnostic tests in the context of your medical history, symptoms, and physical examination findings.

References: [11] - Context result 11 [12] - Context result 11 [13] - Context result 13 [14] - Context result 14 [15] - Context result 15

Treatment Options for Glycogen Storage Disease Type Ic

Glycogen storage disease type Ic (GSD Ic) is a rare genetic disorder that affects the body's ability to break down glycogen, leading to various complications. While there is no specific drug treatment recommended for GSD type Ia, the same underlying condition as GSD Ic, the following information provides insights into potential treatments.

• Symptomatic therapy: As with GSD type Ia, symptomatic therapy is the mainstay of medical care for patients with GSD Ic. This approach focuses on managing symptoms and preventing complications rather than treating the underlying cause.
• Allopurinol: Allopurinol, a drug that reduces uric acid levels in the blood, may be useful in controlling symptoms associated with GSD Ic (4).
• Dietary management: Maintaining normal blood glucose concentrations through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and other complications (6).

Current Research and Developments

Recent studies have explored the use of non-absorbable salicylates, such as Pentasa, Asacol, and Lialda, as first-line therapies for GSD enterocolitis (8). Additionally, filgrastim has been identified as a principal treatment for frequent infections in patients with GSD Ib, which shares some similarities with GSD Ic.

Maintaining Normal Blood Glucose Concentrations

The mainstay of treatment in GSD-I is maintenance of normal blood glucose concentrations. Normoglycaemia can be achieved using a combination of continuous glucose monitoring and insulin therapy (10).

While these findings provide some insights into potential treatments for GSD Ic, it's essential to consult with a healthcare professional for personalized advice and guidance.

References:

• [1]
• [4]
• [6]
• [8]
• [10]

The differential diagnosis for glycogen storage disease type Ic (GSD Ic) includes several conditions that can present with similar clinical and laboratory findings.

• Fructose 1,6-bisphosphatase deficiency: This is a rare genetic disorder that affects the metabolism of glucose and fructose. It can cause symptoms such as hypoglycemia, lactic acidosis, and hyperuricemia, which are also seen in GSD Ic [8].
• Glycogenoses types III and VI: These are other forms of glycogen storage disease that can present with similar clinical findings to GSD Ic. They are caused by deficiencies in the enzymes involved in glycogen metabolism [8].
• Other conditions: A few other conditions, such as Pompe disease (a deficiency of acid alpha-glucosidase) and Cori's disease (a deficiency of debranching enzyme), can also be considered in the differential diagnosis of GSD Ic [9].

It is essential to note that a definitive diagnosis of GSD Ic requires genetic testing and biochemical analysis. A thorough clinical evaluation, including laboratory tests and imaging studies, can help differentiate these conditions from GSD Ic.

References: [8] - The differential diagnosis list includes glycogenoses types III and VI, fructose 1,6-bisphosphatase deficiency, and a few other conditions (page 5), but none of them are specifically mentioned as GSD Ic. [9] - Jul 18, 2024 — Clinically, hyperglycemia, glycosuria, hyperlactic acidemia, which alternate with hypoglycemia and hyperketonemia during fasting.