congenital disorder of glycosylation type IIh

Congenital Disorder of Glycosylation Type IIh (CDG IIh) Description

CDG IIh, also known as Congenital Disorder of Glycosylation Type IIh, is a rare genetic disorder that affects the synthesis of glycoproteins. It is characterized by severe psychomotor retardation, failure to thrive, and intolerance to wheat and dairy products.

Key Features:

• Severe psychomotor retardation
• Failure to thrive
• Intolerance to wheat and dairy products
• Abnormal blood and blood-forming tissues (reduced protein S activity)
• Anteverted nares (abnormality of head or neck)

Causes: CDG IIh is caused by homozygous or compound heterozygous mutations in the COG8 gene on chromosome 16q22.1.

References:

• [3] Congenital Disorder of Glycosylation (CDG) Type IIh is an autosomal recessive disorder affecting glycoprotein synthesis.
• [4] CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
• [7] A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.
• [9] Definition: A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.

Note: The above description is based on information from search results [3], [4], [7], and [9].

Symptoms of CDG Type IIh

CDG syndrome type IIh, also known as Congenital Disorder of Glycosylation type IIh, is a rare genetic disorder that affects the body's ability to synthesize certain proteins. The symptoms of this condition can vary in severity and may include:

• Severe psychomotor retardation: Individuals with CDG Type II

Diagnostic Tests for Congenital Disorder of Glycosylation Type IIh

Congenital disorder of glycosylation (CDG) type IIh is a rare genetic disorder that affects the body's ability to produce certain sugars. Diagnostic tests are essential to confirm the diagnosis and identify the specific subtype.

• Blood Test: A blood test can detect abnormal glycans, which may indicate a glycosylation defect. This initial test can help identify CDG as a possible cause of symptoms.
• Molecular Genetic Testing: Once a glycosylation defect is found, additional tests are needed to identify the specific CDG subtype. Molecular genetic testing involves analyzing DNA from whole blood or other tissues to confirm the diagnosis and identify the specific form of CDG.
• Sequence Analysis-All Coding Exons: This test analyzes all coding exons of the COG8 gene, which is associated with CDG2H (COG8-CDG).
• Prenatal Testing: Prenatal testing can be performed to detect CDG2H in a fetus.

Diagnostic Steps

The diagnostic approach for CDG involves several steps:

1. Initial blood test to detect abnormal glycans
2. Molecular genetic testing to confirm the diagnosis and identify the specific form of CDG
3. Sequence analysis of all coding exons of the COG8 gene (for CDG2H)
4. Prenatal testing (if suspected in a fetus)

References

• [1] Congenital Disorder Of Glycosylation Type IIh, AR, 611182.
• [2] This test is useful for the diagnosis of patients in whom a congenital disorder of glycosylation is suspected due to clinical symptoms or biochemical findings, ...
• [3] Congenital disorder of glycosylation, type IIh, 611182; CDG2H (COG8-CDG) (COG8 gene) (Sequence Analysis-All Coding Exons) (Prenatal).
• [13] Congenital Disorders of Glycosylation: Diagnostic steps Dirk J. Lefeber ([email protected]) ... IIe/IIg/IIh Diagnostic approach N-glycosylation Ib Ia Id Ic If Ig Ih Ii Ik Ij IL Ie IL Im = dolichol-PP. CDG patients with different profiles control Type I; ER defects 0 2 4 M M M G G N N AsnAsn - - patient Type II; Golgi defects 4 3 2 1 0 G G ...

Based on the available information, it appears that there is no specific drug treatment available for Congenital Disorder of Glycosylation (CDG) Type IIh.

• According to search result [3], CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. However, no specific treatment is mentioned.
• Search result [4] also states that CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products, but again, no specific treatment is mentioned.
• In most cases of congenital disorders of glycosylation subtypes, including CDG Type IIh, there is no specific treatment available. Symptomatic treatment should be employed for those affected (search result [5]).
• Search result [6] also mentions that the majority of CDG subtypes currently have no specific treatment, and therapy is largely symptomatic.

However, it's worth noting that in some cases of CDG, such as Phosphomannose isomerase deficiency (CDG1b), symptoms can be decreased by treatment with mannose (search result [9]).

Therefore, based on the available information, there does not appear to be a specific drug treatment for Congenital Disorder of Glycosylation Type IIh. Treatment is largely symptomatic and focused on managing the various systems affected by the disorder.

References: [3] - Context search result 3 [4] - Context search result 4 [5] - Context search result 5 [6] - Context search result 6 [9] - Context search result 9

Understanding Differential Diagnosis for Congenital Disorder of Glycosylation Type IIh

The differential diagnosis for congenital disorders of glycosylation (CDG) is multifaceted, and patients are often suspected to have other disorders. For CDG type IIh, a specific consideration should be made.

• COG8 deficiency: This genetic defect causes CDG type IIh, which affects various systems in the body, leading to symptoms like psychomotor retardation, coagulation disorders, and immunodeficiency [6].
• Laboratory diagnosis: The laboratory diagnosis of CDG type IIh involves identifying mutations in genes directly involved in the glycosylation pathway, such as COG8 [7].

Key Considerations for Differential Diagnosis

When considering differential diagnoses for CDG type IIh, it's essential to keep the following points in mind:

• Complex process: Glycosylation is a complex process that affects various systems in the body. A defect in this process can lead to a wide range of symptoms and disorders [8].
• Genetic causes: Known genetic causes for skeletal dysplasias were excluded, but no specific genetic cause was identified for CDG type IIh [9].

Conclusion

In conclusion, differential diagnosis for congenital disorder of glycosylation type IIh involves considering the complex process of glycosylation and identifying potential genetic defects. By understanding these factors, healthcare professionals can make informed decisions