CDG syndrome type 1A
CDG Syndrome Type 1A (also known as Congenital Disorders of Glycosylation Type 1A) is a rare genetic disorder that affects the normal development and function of various parts of the body. It is one of the many types of Congenital Disorders of Glycosylation (CDG), a group of inherited metabolic disorders characterized by defective glycoprotein biosynthesis.
Overview[edit | edit source]
CDG Syndrome Type 1A is caused by mutations in the Phosphomannomutase 2 (PMM2) gene. This gene provides instructions for making an enzyme that is essential for glycosylation, the process by which complex sugar molecules (glycans) are attached to proteins and lipids. This process is critical for the normal function of various body systems.
Symptoms[edit | edit source]
The symptoms of CDG Syndrome Type 1A can vary widely among affected individuals. They may include developmental delay, intellectual disability, seizures, abnormal fat distribution, and distinctive facial features. Some individuals may also have problems with their heart, liver, kidneys, or other organs.
Diagnosis[edit | edit source]
The diagnosis of CDG Syndrome Type 1A is typically based on the presence of characteristic clinical features and confirmed by genetic testing. The testing involves sequencing the PMM2 gene to identify any mutations.
Treatment[edit | edit source]
There is currently no cure for CDG Syndrome Type 1A. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage seizures and other symptoms.
Prognosis[edit | edit source]
The prognosis for individuals with CDG Syndrome Type 1A can vary widely. Some individuals may have a relatively mild course with few complications, while others may have severe, life-threatening problems.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
CDG syndrome type 1A is a rare disease.
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