ALG1-CDG
ALG1-CDG
ALG1-CDG (pronounced: ALG-one-CDG), also known as Congenital disorder of glycosylation type Ik or CDG-Ik, is a rare genetic disorder that affects the body's ability to properly attach sugar molecules to proteins, a process known as glycosylation.
Etymology
The term ALG1-CDG is derived from the name of the gene that is mutated in this disorder, ALG1, and the abbreviation for the group of disorders it belongs to, CDG, which stands for Congenital Disorders of Glycosylation.
Symptoms
Symptoms of ALG1-CDG can vary widely, but often include developmental delay, intellectual disability, seizures, and failure to thrive. Some affected individuals may also have distinctive facial features, such as a high forehead, a short nose with a broad tip, and a thin upper lip.
Diagnosis
Diagnosis of ALG1-CDG is typically made through genetic testing, which can identify mutations in the ALG1 gene. Additional tests, such as enzyme analysis or glycosylation analysis, may also be used to confirm the diagnosis.
Treatment
There is currently no cure for ALG1-CDG. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy, occupational therapy, and speech therapy to help manage developmental delays and intellectual disability. Seizures are typically managed with antiepileptic drugs.
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 of symptoms, while others may have a shortened lifespan due to complications from the disorder.
See also
External links
- Medical encyclopedia article on ALG1-CDG
- Wikipedia's article - ALG1-CDG
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