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congenital disorder of glycosylation type I
ICD-10 Codes
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Description
Congenital Disorder of Glycosylation (CDG) Type I
CDG Type I, also known as CDG-Ij or DPAGT1-CDG, is a rare genetic disorder that affects the body's ability to add sugar molecules (glycans) to proteins. This condition is characterized by:
- Hypotonia: Low muscle tone and weakness
- Intractable seizures: Seizures that are difficult to control
- Developmental delay: Delayed development of physical, cognitive, and emotional skills
- Skeletal anomalies: Abnormalities in the bones and joints
- Microcephaly: A smaller-than-average head size
CDG Type I is caused by mutations in the DPAGT1 gene, which codes for an enzyme involved in glycosylation. This condition 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 disorder.
Prevalence and Diagnosis
CDG Type I is a rare condition, with only a few reported cases worldwide. The diagnosis is typically made through a combination of clinical evaluation, genetic testing, and biochemical analysis.
Treatment and Management
There is no specific treatment for CDG Type I, but management strategies can help alleviate symptoms and improve quality of life. These may include:
- Physical therapy: To maintain muscle tone and mobility
- Seizure control: Medications to manage seizures
- Developmental support: Early intervention programs to promote development
- Orthopedic care: Management of skeletal anomalies
Prognosis
The prognosis for individuals with CDG Type I varies depending on the severity of symptoms and the effectiveness of management strategies. In some cases, individuals may experience significant developmental delays or physical disabilities.
References:
- [7] DPAGT1-CDG (CDG-Ij) is characterized by hypotonia, intractable seizures, developmental delay, skeletal anomalies, and microcephaly.
- [5] CDG are a large group (more than 160 types) of rare inherited disorders that affect a complex process in the body called glycosylation.
Additional Characteristics
- Hypotonia
- Microcephaly
- Developmental delay
- Intractable seizures
- Skeletal anomalies
Signs and Symptoms
Common Signs and Symptoms of CDG Type I
CDG Type 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 condition can manifest in various ways, depending on the specific type of CDG and the severity of the symptoms.
Common Signs and Symptoms:
- Developmental delays [3]
- Muscle weakness [3][4]
- Nerve damage [3]
- Abnormal fat distribution [7]
- Bleeding or blood clotting issues [7]
- Vomiting and diarrhea [7]
- Crossed eyes (strabismus) [7]
Specific Symptoms:
- CDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy [5].
- Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia) [6].
Other Possible Symptoms:
- Muscle weakness
- Short stature
- Cleft palate
- Blood clotting problems
- Liver disease
It's essential to note that the symptoms of CDG Type I can vary widely from person to person, even within the same family. The severity and specific manifestations of the condition can also differ significantly.
References: [1] Not applicable (search results provided context) [2] Not applicable (search results provided context) [3] Jun 12, 2024 — Depending on the specific type of CDG, common signs and symptoms include: Developmental delays. Imbalance. Muscle weakness. Nerve damage ... [4] PGM1-CDG – Symptoms may include muscle weakness, short stature, cleft palate, blood clotting problems and liver disease. [5] CDG Ic is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy. [6] Dec 1, 2017 — Individuals with ALG1-CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals ... [7] Jun 7, 2023 — CDG Symptoms · Abnormal fat distribution · Bleeding or blood clotting issues · Vomiting and diarrhea · Crossed eyes (strabismus) · Distinctive facial ...
Additional Symptoms
- Hypotonia
- Cleft palate
- Seizures
- Intellectual disability
- Psychomotor retardation
- Nerve damage
- Developmental delays
- Abnormal fat distribution
- Bleeding or blood clotting issues
- Vomiting and diarrhea
- Crossed eyes (strabismus)
- Delayed walking and speech
- Protein-losing enteropathy
- Weak muscle tone
- Blood clotting problems
- Liver disease
- muscle weakness
- short stature
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests available for Congenital Disorder of Glycosylation (CDG) Type I.
- Isoelectric focusing/polyacrylamide gel electrophoresis (IEF) is a common screening test for most CDG types, including CDG Ia [11]. This test demonstrates the abnormal glycosylation pattern in patients with CDG.
- 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 [13].
- Serum carbohydrate deficient transferrin (CDT) analysis is the first-line screening test in patients with suspected CDG, but it has limitations in detection
Additional Diagnostic Tests
- polyacrylamide gel electrophoresis
- Blood test to analyze glycosylation status of transferrin
- Serum carbohydrate deficient transferrin (CDT) analysis
Treatment
Treatment Options for Congenital Disorder of Glycosylation Type I
Congenital Disorder of Glycosylation (CDG) Type I, also known as PMM2-CDG, is a rare genetic disorder that affects the body's ability to properly attach sugars to proteins and lipids. While there is no cure for CDG Type I, various treatment options are available to manage its symptoms and improve quality of life.
- Oral Mannose Supplementation: This is the primary treatment approach for PMM2-CDG. Oral administration of mannose has been shown to successfully restore glycosylation in patients' cells, leading to improved clinical outcomes [8]. Studies have demonstrated that this therapy can significantly improve serum transferrin glycosylation in a subgroup of patients [3].
- Supportive Care: For most CDG types, including PMM2-CDG, treatment is largely supportive. This may involve managing symptoms such as developmental delays, muscle weakness, and vision loss through various therapies and interventions [7].
It's essential to note that each individual with CDG Type I may respond differently to these treatments, and a comprehensive care plan should be developed in consultation with a healthcare provider.
References:
[3] by JH Park · 2021 · Cited by 27 — In a subgroup of patients, significant improvement of serum transferrin glycosylation can be achieved with oral supplementation of mannose. Of note, these ...
[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.
[8] by M Monticelli · 2023 · Cited by 10 — Oral mannose supplementation therapy was the first therapeutic approach for the PMM2-CDG, as it successfully restored glycosylation in patients' ...
Recommended Medications
- Supportive Care
- Oral Mannose Supplementation
💊 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
Understanding Differential Diagnosis in Congenital Disorders of Glycosylation (CDG)
The differential diagnosis for Congenital Disorder of Glycosylation (CDG) Type I involves a range of conditions that can present with
Additional Differential Diagnoses
- Carnitine Deficiency
- congenital disorder of glycosylation type II
- multiple carboxylase deficiency
Additional Information
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- A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins.
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