congenital disorder of glycosylation type IIi

Congenital Disorder of Glycosylation Type IIi (CDG IIi) Description

CDG IIi, also known as COG5-CDG, is a rare inherited condition that causes neurological problems and other abnormalities. The pattern and severity of this disorder's signs and symptoms can vary greatly among affected individuals.

Key Features:

• Inherited condition caused by mutation in the COG5 gene
• Neurological problems, such as developmental delay, muscle weakness, and seizures [1]
• Other abnormalities, including vision problems, short stature, cleft palate, blood clotting issues, and liver disease [7]

Symptoms May Include:

• Muscle weakness
• Short stature
• Cleft palate
• Blood clotting problems
• Liver disease

Characteristics:

• Under-glycosylated serum glycoproteins
• Moderate mental retardation
• Slow speech
• Truncal ataxia
• Mild hypotonia [8]

CDG IIi

Congenital Disorder of Glycosylation Type IIi (COG5-CDG) Signs and Symptoms

Individuals with COG5-CDG, a rare form of Congenital Disorder of Glycosylation (CDG), typically develop signs and symptoms during infancy. The severity and pattern of these symptoms can vary among affected individuals.

Common Signs and Symptoms:

• Neurological problems
• Developmental delay
• Failure to thrive
• Hypotonia (low muscle tone)
• Hepatopathy (liver disease)

These symptoms are often multi-systemic, meaning they affect multiple parts of the body. The severity and prognosis of COG5-CDG can vary greatly depending on the specific type of CDG and individual factors.

Specific Symptoms:

• Moderate mental retardation [6]
• Severe developmental delay
• Low muscle tone seen in infancy [5]

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Diagnostic Tests for Congenital Disorder of Glycosylation Type IIi (CDG-IIi)

Congenital Disorder of Glycosylation Type IIi (CDG-IIi), also known as COG5-CDG, is a rare inherited condition that causes neurological problems and other abnormalities. To confirm a diagnosis of CDG-IIi, molecular genetic testing is required.

• Recommended First-Tier Test: The recommended first-tier test to screen for congenital disorders of glycosylation (CDG) is a biochemical test that analyzes transferrin and apolipoprotein [4].
• Blood Test for Transferrin Glycosylation Status: A simple blood test to analyze the glycosylation status of transferrin can help diagnose or confirm many cases of CDG due to N-glycosylation defects, including CDG-IIi [5].
• Comprehensive N-Glycan Testing: Comprehensive N-glycan testing is also available to help diagnose congenital disorders of glycosylation (CDGs), including CDG-IIi [8].

These diagnostic tests are essential for confirming a diagnosis of CDG-IIi and identifying the specific form of the condition. Early diagnosis and genetic counseling can provide valuable information for families affected by this rare disorder.

References:

[1] Molecular genetic testing is required to confirm a diagnosis of CDG-IIi. [2] Aug 1, 2014 — COG5-CDG, formerly known as congenital disorder of glycosylation type IIi is an inherited condition that causes neurological problems and other abnormalities. [3] The Invitae Congenital Disorders of Glycosylation Panel analyzes genes that are associated with congenital disorders of glycosylation (CDGs). [4] The recommended first-tier test to screen for congenital disorders of glycosylation (CDG) is a biochemical test that analyzes transferrin and apolipoprotein ... [5] May 11, 2021 — For CDG due to N-glycosylation defects, a simple blood test to analyze the glycosylation status of transferrin can help diagnose or confirm many ... [8] CHOP offers comprehensive N-glycan testing to help diagnose congenital disorders of glycosylation (CDGs).

Treatment Options for Congenital Disorder of Glycosylation Type IIi (COG5-CDG)

Congenital Disorder of Glycosylation Type IIi, also known as COG5-CDG, is a rare genetic disorder that affects the body's ability to produce certain sugars. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.

• Supportive Care: The primary approach to treating COG5-CDG is through supportive care, which includes managing symptoms such as seizures, muscle weakness, and vision problems [3].
• Nutritional Interventions: Some individuals with COG5-CDG may benefit from nutritional interventions, such as dietary supplements or oral mannose therapy [7]. However, the effectiveness of these treatments can vary depending on the individual case.
• Gene Therapy: Researchers are exploring gene therapy as a potential treatment option for COG5-CDG. This approach involves replacing or repairing the faulty gene responsible for the condition [4].
• Molecular Chaperones: Molecular chaperones, such as heat shock proteins, have been shown to be beneficial in treating certain types of CDG, including COG5-CDG [4].

It's essential to note that each individual with COG5-CDG may require a personalized treatment plan, taking into account their unique symptoms and needs. A multidisciplinary team of healthcare professionals, including geneticists, neurologists, and nutritionists, can work together to develop an effective treatment strategy.

References:

[3] Aug 1, 2014 — COG5-CDG, formerly known as congenital disorder of glycosylation type IIi is an inherited condition that causes neurological problems and other abnormalities. [7] by IJ Chang · 2018 · Cited by 247 — Treatment for the majority of CDG types is largely supportive, with a few exceptions. MPI-CDG is the most effectively treatable of all CDG. Oral mannose is ... [4] by J Verheijen · 2020 · Cited by 106 — Successful application of monosaccharide supplementation, dietary intervention, transplantation, molecular chaperones, and gene therapy has been described for ...

**Differential Diagnosis of Congenital Disorder of Glycosylation (CDG)