NGLY1 deficiency

NGLY1 deficiency is a rare genetic disorder characterized by a variety of symptoms, including developmental delay, movement disorder, and liver disease. It is caused by mutations in the NGLY1 gene, which is responsible for producing an enzyme that helps break down and recycle proteins in cells.

Symptoms and Signs

The symptoms of NGLY1 deficiency can vary widely among affected individuals. Common symptoms include developmental delay, movement disorder, and liver disease. Other symptoms can include seizures, abnormal eye movements, and a lack of tears.

Causes

NGLY1 deficiency is caused by mutations in the NGLY1 gene. This gene provides instructions for making an enzyme that is involved in the process of breaking down and recycling proteins in cells. When the NGLY1 gene is mutated, the enzyme's activity can be reduced or eliminated, leading to the symptoms of NGLY1 deficiency.

Diagnosis

Diagnosis of NGLY1 deficiency is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests can include genetic testing, which can identify mutations in the NGLY1 gene.

Treatment

There is currently no cure for NGLY1 deficiency. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and medications to manage symptoms.

Prognosis

The prognosis for individuals with NGLY1 deficiency varies. Some individuals have a mild form of the disease and live into adulthood, while others have a more severe form and may not survive past childhood.

See also

• Genetic disorder
• Rare disease
• NGLY1

References

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