ALG1-CDG: Difference between revisions
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{{Infobox medical condition | |||
| name = ALG1-CDG | |||
| synonyms = Congenital disorder of glycosylation type Ik | |||
| field = [[Medical genetics]] | |||
| symptoms = Developmental delay, [[hypotonia]], [[seizures]], [[liver dysfunction]], [[coagulation disorders]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the ''[[ALG1]]'' gene | |||
| risks = Genetic inheritance ([[autosomal recessive]]) | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| treatment = Symptomatic management, [[supportive care]] | |||
| prognosis = Variable, depends on severity | |||
| frequency = Rare | |||
| deaths = Not commonly reported | |||
}} | |||
'''ALG1-CDG''' (also known as '''CDG-Ih''' or '''Congenital Disorder of Glycosylation Type 1h''') is a rare [[genetic disorder]] that affects the body's ability to properly attach [[sugar]] molecules to proteins, a process known as [[glycosylation]]. This disorder is caused by mutations in the [[ALG1]] gene. | '''ALG1-CDG''' (also known as '''CDG-Ih''' or '''Congenital Disorder of Glycosylation Type 1h''') is a rare [[genetic disorder]] that affects the body's ability to properly attach [[sugar]] molecules to proteins, a process known as [[glycosylation]]. This disorder is caused by mutations in the [[ALG1]] gene. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of ALG1-CDG can vary widely among affected individuals. Common symptoms include [[developmental delay]], [[intellectual disability]], [[seizures]], and various physical abnormalities. Some individuals may also have [[liver disease]], [[heart defects]], and [[coagulation]] problems. | The symptoms of ALG1-CDG can vary widely among affected individuals. Common symptoms include [[developmental delay]], [[intellectual disability]], [[seizures]], and various physical abnormalities. Some individuals may also have [[liver disease]], [[heart defects]], and [[coagulation]] problems. | ||
== Genetics == | == Genetics == | ||
ALG1-CDG is caused by mutations in the ALG1 gene. This gene provides instructions for making an enzyme that is involved in the process of glycosylation. Mutations in the ALG1 gene disrupt this process, leading to the symptoms of ALG1-CDG. | ALG1-CDG is caused by mutations in the ALG1 gene. This gene provides instructions for making an enzyme that is involved in the process of glycosylation. Mutations in the ALG1 gene disrupt this process, leading to the symptoms of ALG1-CDG. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of ALG1-CDG is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized laboratory testing. Genetic testing can confirm the diagnosis. | Diagnosis of ALG1-CDG is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized laboratory testing. Genetic testing can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for ALG1-CDG. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms. | There is currently no cure for ALG1-CDG. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with ALG1-CDG varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have life-threatening complications. | The prognosis for individuals with ALG1-CDG varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have life-threatening complications. | ||
== See also == | == See also == | ||
* [[Congenital Disorders of Glycosylation]] | * [[Congenital Disorders of Glycosylation]] | ||
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* [[Glycosylation]] | * [[Glycosylation]] | ||
* [[ALG1]] | * [[ALG1]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Congenital disorders of glycosylation]] | [[Category:Congenital disorders of glycosylation]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 22:00, 3 April 2025
| ALG1-CDG | |
|---|---|
| Synonyms | Congenital disorder of glycosylation type Ik |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, hypotonia, seizures, liver dysfunction, coagulation disorders |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the ALG1 gene |
| Risks | Genetic inheritance (autosomal recessive) |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | N/A |
| Prevention | N/A |
| Treatment | Symptomatic management, supportive care |
| Medication | N/A |
| Prognosis | Variable, depends on severity |
| Frequency | Rare |
| Deaths | Not commonly reported |
ALG1-CDG (also known as CDG-Ih or Congenital Disorder of Glycosylation Type 1h) is a rare genetic disorder that affects the body's ability to properly attach sugar molecules to proteins, a process known as glycosylation. This disorder is caused by mutations in the ALG1 gene.
Symptoms[edit]
The symptoms of ALG1-CDG can vary widely among affected individuals. Common symptoms include developmental delay, intellectual disability, seizures, and various physical abnormalities. Some individuals may also have liver disease, heart defects, and coagulation problems.
Genetics[edit]
ALG1-CDG is caused by mutations in the ALG1 gene. This gene provides instructions for making an enzyme that is involved in the process of glycosylation. Mutations in the ALG1 gene disrupt this process, leading to the symptoms of ALG1-CDG.
Diagnosis[edit]
Diagnosis of ALG1-CDG is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized laboratory testing. Genetic testing can confirm the diagnosis.
Treatment[edit]
There is currently no cure for ALG1-CDG. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms.
Prognosis[edit]
The prognosis for individuals with ALG1-CDG varies depending on the severity of symptoms. Some individuals may have a normal lifespan with appropriate management, while others may have life-threatening complications.
