congenital disorder of glycosylation Il

Based on the provided context, I will attempt to provide an informative response about the description of Congenital Disorder of Glycosylation (CDG) II.

What is CDG II?

CDG II, also known as PMM2-CDG or Congenital Disorder of Glycosylation Type Ib, is a rare genetic disorder that affects the body's ability to properly attach sugars to proteins and fats. This condition is caused by mutations in the PMM2 gene, which codes for an enzyme involved in glycosylation.

Symptoms and Characteristics

Individuals with CDG II typically experience a wide range of health problems due to the improper attachment of sugars to proteins and fats. Some common symptoms include:

• Developmental delays and intellectual disability
• Muscle weakness and wasting
• Seizures and other neurological problems
• Vision and hearing impairments
• Heart defects and other cardiovascular issues

Prevalence and Inheritance

CDG II is a rare condition, with an estimated prevalence of 1 in 50,000 to 1 in 100,000 births. It is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene for their child to develop the condition.

Diagnosis and Management

Diagnosis of CDG II is typically made through a combination of clinical evaluation, genetic testing, and biochemical analysis. There is no cure for CDG II, but management strategies can help alleviate symptoms and improve quality of life. These may include physical therapy, speech therapy, medication to control seizures or other symptoms, and supportive care.

References

• [1] Congenital disorders of glycosylation (CDG) are a large group of rare genetic disorders that affect the addition of sugar building blocks, called glycans, to proteins in cells throughout the body. The addition of glycans to proteins is critical to the healthy function of cells. People with CDG have a wide range of health problems because of ...
• [2] Congenital disorders of glycosylation (CDG) is an umbrella term for a rapidly expanding group of over 130 rare genetic, metabolic disorders due to defects in a complex chemical process known as glycosylation.
• [5] Received 2018 Aug 12; Accepted ... ... Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways.
• [6] Disorders affecting the lysosomal degradation of glycans are described in Chapter 7.

Common Signs and Symptoms of CDG-I

CDG-I, also known as Congenital Disorder of Glycosylation Type I, is a rare genetic disorder that affects the body's ability to properly attach sugar molecules (glycans) to proteins. This can lead to a wide range of symptoms, which can vary in severity from mild to severe.

Common Symptoms:

• Developmental delays [2]
• Muscle weakness or hypotonia [3]
• Poor growth and short stature [3]
• Liver disease [4]
• Abnormal bleeding or blood clotting [3]
• Crossed or misaligned eyes (strabismus) [3]

Additional Symptoms:

• Elevated liver function test results [4]
• Seizures [4]
• Fluid around the heart (pericardial effusion) [4]
• Intellectual disability [6]
• Delayed development [6]
• Weak muscle tone (hypotonia) [6]

Symptoms in Infancy:

In most cases, symptoms of CDG-I begin to appear in infancy. The severity of these symptoms can range from mild to severe and even life-threatening.

It's essential to note that the symptoms of CDG-I can vary widely between individuals, and not everyone will experience all of these symptoms. If you suspect that you or a loved one may have CDG-I, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] Not provided (CDG is mentioned in the context but no specific information about CDG-I) [2] Jun 12, 2024 [3] What are the symptoms of CDG? [4] Children with PMM2-CDG may also have elevated liver function test results, seizures, fluid around the heart (pericardial effusion), and blood clotting problems... [6] Dec 1, 2017

Based on the available information, it appears that diagnostic tests for Congenital Disorder of Glycosylation (CDG) II are not specifically mentioned in the search results provided.

However, I can provide some general information about CDG and its diagnosis. CDG is a group of rare genetic disorders caused by defects in protein glycosylation [3]. The diagnosis of CDG typically involves molecular genetic testing to confirm the presence of a specific mutation or deletion [1].

While there is no specific mention of diagnostic tests for CDG II, it's worth noting that the Invitae Congenital Disorders of Glycosylation Panel analyzes genes associated with congenital disorders of glycosylation (CDGs), which may include CDG II [4]. Additionally, CHOP offers comprehensive N-glycan testing to help diagnose congenital disorders of glycosylation (CDGs) [8], which might be relevant for CDG II diagnosis.

It's also mentioned that the recommended first-tier test to screen for congenital disorders of glycosylation (CDG) is a biochemical test that analyzes transferrin and apolipoprotein C-III [9]. However, this information is more general and not specific to CDG II.

If you're looking for more specific information on diagnostic tests for CDG II, I would recommend searching further or consulting with a medical professional.

Treatment Options for Congenital Disorder of Glycosylation (CDG) II

Congenital disorders of glycosylation (CDG) are a group of rare genetic disorders that affect the body's ability to properly synthesize glycans, which are complex carbohydrates essential for various cellular functions. CDG-II is one subtype of CDG.

Current Treatment Options

While there is no specific treatment for CDG-II, research has shown that some patients have responded well to certain treatments. According to a study published in [2], galactose supplementation has been found to improve glycosylation in patients with CDG-II, resulting in decreased ratios of incompletely formed to fully formed glycans.

Specific Treatment for PMM2-CDG

A pilot trial conducted on 9 patients with PMM2-CDG (a subtype of CDG-II) found that D-galactose supplementation was effective in improving glycosylation [4]. However, it is essential to note that this treatment may not be suitable for all patients with CDG-II.

Symptomatic Treatment

As there is no specific treatment for most CDG subtypes, including CDG-II, therapy is largely symptomatic. This approach involves addressing the various multisystem dysfunctions associated with the disorder [8].

Early Diagnosis and Treatment

Early diagnosis of any CDG subtype, including CDG-II, is crucial for initiating specific treatment, such as free mannose supplementation in CDG-Ib patients [9]. However, this may not be applicable to all CDG subtypes.

In summary, while there is no specific treatment for CDG-II, research has shown that galactose supplementation and D-galactose may be effective in improving glycosylation in some patients. Symptomatic treatment remains the primary approach for managing CDG-II.

References:

[1] Not provided (search result 1) [2] by P Witters · 2020 · Cited by 63 [4] by P Witters · 2021 · Cited by 13 [8] Not provided (search result 8) [9] by JG Leroy · 2006 · Cited by 102

Differential Diagnosis of Congenital Disorder of Glycosylation (CDG) II

Congenital disorders of glycosylation (CDGs) are a group of rare genetic disorders that affect the addition of sugar building blocks, called glycans, to proteins in cells throughout the body. CDG II is one of the subtypes of CDG, characterized by defects in the synthesis of oligosaccharides.

Clinical Features

The clinical manifestations and course of CDG II are highly variable, ranging from infants who die in the first year of life to mildly affected individuals with a normal lifespan [1]. Some common symptoms associated with CDG II include:

• Increased infectious susceptibility
• Marked leukocytosis (elevated white blood cell count)
• Rare Bombay blood group
• Severe mental retardation
• Short stature

Differential Diagnosis

CDG II can be challenging to diagnose due to its rarity and variability in clinical presentation. However, a combination of unexplained health problems can be an indication of the disorder [11]. The differential diagnosis for CDG II may include:

• Other congenital disorders of glycosylation (e.g., CDG I)
• Metabolic disorders (e.g., Pompe disease, Gaucher disease)
• Immunodeficiency