NGLY1 deficiency
NGLY1 Deficiency
NGLY1 deficiency (pronounced en-gly-one deficiency) is a rare genetic disorder that affects multiple systems of the body. The condition is characterized by a lack of the enzyme N-glycanase 1, which is encoded by the NGLY1 gene.
Etymology
The term "NGLY1 deficiency" is derived from the name of the gene that is mutated in this condition, NGLY1, which stands for "N-glycanase 1". The term "deficiency" refers to the lack or insufficiency of this enzyme in individuals with the condition.
Symptoms
Symptoms of NGLY1 deficiency can vary widely among affected individuals. Common symptoms include developmental delay, movement disorders, liver disease, and a lack of tears. Other symptoms may include seizures, intellectual disability, and various other health problems.
Causes
NGLY1 deficiency is caused by mutations in the NGLY1 gene. This gene provides instructions for making an enzyme called N-glycanase 1, which is involved in the process of removing sugar molecules from proteins in the cell. When mutations occur in the NGLY1 gene, the resulting enzyme is either nonfunctional or absent, leading to the symptoms of NGLY1 deficiency.
Diagnosis
Diagnosis of NGLY1 deficiency is typically made through genetic testing, which can identify mutations in the NGLY1 gene. Other diagnostic tests may include physical examination, medical history, and various laboratory tests.
Treatment
There is currently no cure for NGLY1 deficiency. Treatment is symptomatic and supportive, and may include physical therapy, medications to manage symptoms, and other interventions as needed.
See also
References
External links
- Medical encyclopedia article on NGLY1 deficiency
- Wikipedia's article - NGLY1 deficiency
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